Canonical Allele Identifier: CA16043469
Gene: SOX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 374026
ClinVar RCV Id: RCV000414904 RCV001198297
dbSNP Id: rs1057518845
MyVariant Identifiers: chr12:g.23908660T>G (hg19) chr12:g.23755726T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.23755726T>G , CM000674.2:g.23755726T>G GRCh38
NC_000012.11:g.23908660T>G , CM000674.1:g.23908660T>G GRCh37
NC_000012.10:g.23799927T>G NCBI36
NG_029612.1:g.811721A>C
NG_029612.2:g.811721A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000704298.1:c.443-2A>C ENSP00000515822.1:n.443-2A>C
ENST00000704299.1:c.338-2A>C ENSP00000515823.1:n.338-2A>C
ENST00000704300.1:c.443-2A>C ENSP00000515824.1:n.443-2A>C
ENST00000451604.7:c.482-2A>C MANE Select ENSP00000398273.2:n.482-2A>C
ENST00000646273.1:c.443-2A>C ENSP00000493866.1:n.443-2A>C
ENST00000659413.1:c.338-2A>C ENSP00000499309.1:n.338-2A>C
ENST00000367206.7:c.452-2A>C ENSP00000356174.3:n.452-2A>C
ENST00000381381.6:c.443-2A>C ENSP00000370788.2:n.443-2A>C
ENST00000451604.6:c.482-2A>C ENSP00000398273.2:n.482-2A>C
ENST00000537393.5:c.377-2A>C ENSP00000439832.1:n.377-2A>C
ENST00000541536.5:c.443-2A>C ENSP00000441973.1:n.443-2A>C
ENST00000541847.5:c.452-2A>C ENSP00000442119.1:n.452-2A>C
ENST00000545921.5:c.452-2A>C ENSP00000443520.1:n.452-2A>C
ENST00000546136.5:c.443-2A>C ENSP00000437487.1:n.443-2A>C
NM_001261414.1:c.443-2A>C NP_001248343.1:n.443-2A>C
NM_001261415.1:c.452-2A>C NP_001248344.1:n.452-2A>C
NM_006940.4:c.482-2A>C NP_008871.3:n.482-2A>C
NM_152989.3:c.443-2A>C NP_694534.1:n.443-2A>C
XM_006719149.2:c.443-2A>C XP_006719212.1:n.443-2A>C
XM_011520831.1:c.377-2A>C XP_011519133.1:n.377-2A>C
XM_011520832.1:c.482-2A>C XP_011519134.1:n.482-2A>C
XM_011520833.1:c.452-2A>C XP_011519135.1:n.452-2A>C
XM_011520834.1:c.443-2A>C XP_011519136.1:n.443-2A>C
XM_011520835.1:c.443-2A>C XP_011519137.1:n.443-2A>C
XM_011520836.1:c.443-2A>C XP_011519138.1:n.443-2A>C
XM_011520837.1:c.443-2A>C XP_011519139.1:n.443-2A>C
XM_011520838.1:c.377-2A>C XP_011519140.1:n.377-2A>C
XM_011520839.1:c.338-2A>C XP_011519141.1:n.338-2A>C
XR_931436.1:n.302+180T>G
NM_001261414.2:c.443-2A>C NP_001248343.1:n.443-2A>C
NM_001261415.2:c.452-2A>C NP_001248344.1:n.452-2A>C
NM_001330785.1:c.377-2A>C NP_001317714.1:n.377-2A>C
NM_006940.5:c.482-2A>C NP_008871.3:n.482-2A>C
NM_152989.4:c.443-2A>C NP_694534.1:n.443-2A>C
XM_011520832.2:c.482-2A>C XP_011519134.1:n.482-2A>C
XM_011520833.2:c.452-2A>C XP_011519135.1:n.452-2A>C
XM_011520834.2:c.443-2A>C XP_011519136.1:n.443-2A>C
XM_011520835.2:c.443-2A>C XP_011519137.1:n.443-2A>C
XM_011520837.2:c.443-2A>C XP_011519139.1:n.443-2A>C
XM_011520838.2:c.377-2A>C XP_011519140.1:n.377-2A>C
XM_017019888.1:c.569-2A>C XP_016875377.1:n.569-2A>C
XM_017019889.1:c.569-2A>C XP_016875378.1:n.569-2A>C
XM_017019890.1:c.443-2A>C XP_016875379.1:n.443-2A>C
XM_017019891.1:c.443-2A>C XP_016875380.1:n.443-2A>C
XM_017019892.1:c.443-2A>C XP_016875381.1:n.443-2A>C
XM_017019893.1:c.443-2A>C XP_016875382.1:n.443-2A>C
XM_017019894.1:c.443-2A>C XP_016875383.1:n.443-2A>C
XM_017019895.1:c.443-2A>C XP_016875384.1:n.443-2A>C
XM_017019896.1:c.443-2A>C XP_016875385.1:n.443-2A>C
XM_017019897.1:c.338-2A>C XP_016875386.1:n.338-2A>C
XM_017019898.1:c.338-2A>C XP_016875387.1:n.338-2A>C
XM_017019899.1:c.338-2A>C XP_016875388.1:n.338-2A>C
XM_017019900.1:c.338-2A>C XP_016875389.1:n.338-2A>C
XM_017019901.1:c.338-2A>C XP_016875390.1:n.338-2A>C
XM_017019902.1:c.482-2A>C XP_016875391.1:n.482-2A>C
XM_017019903.1:c.482-2A>C XP_016875392.1:n.482-2A>C
XM_024449150.1:c.443-2A>C XP_024304918.1:n.443-2A>C
XM_024449151.1:c.443-2A>C XP_024304919.1:n.443-2A>C
XM_024449152.1:c.443-2A>C XP_024304920.1:n.443-2A>C
XM_024449153.1:c.443-2A>C XP_024304921.1:n.443-2A>C
XM_024449154.1:c.443-2A>C XP_024304922.1:n.443-2A>C
XM_024449155.1:c.443-2A>C XP_024304923.1:n.443-2A>C
XM_024449157.1:c.443-2A>C XP_024304925.1:n.443-2A>C
XM_024449158.1:c.443-2A>C XP_024304926.1:n.443-2A>C
XM_024449159.1:c.443-2A>C XP_024304927.1:n.443-2A>C
XM_024449160.1:c.443-2A>C XP_024304928.1:n.443-2A>C
XM_024449161.1:c.443-2A>C XP_024304929.1:n.443-2A>C
XM_024449163.1:c.338-2A>C XP_024304931.1:n.338-2A>C
XM_024449164.1:c.338-2A>C XP_024304932.1:n.338-2A>C
XM_024449165.1:c.338-2A>C XP_024304933.1:n.338-2A>C
XR_001749446.1:n.325+180T>G
NM_006940.6:c.482-2A>C MANE Select NP_008871.3:n.482-2A>C
NM_001261414.3:c.443-2A>C NP_001248343.1:n.443-2A>C
NM_001330785.2:c.377-2A>C NP_001317714.1:n.377-2A>C
NM_152989.5:c.443-2A>C NP_694534.1:n.443-2A>C
NM_001261415.3:c.452-2A>C NP_001248344.1:n.452-2A>C
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