Canonical Allele Identifier: CA16043468
Gene: SOX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 374147
ClinVar RCV Id: RCV000414883
dbSNP Id: rs1057518928
MyVariant Identifiers: chr12:g.23818405G>A (hg19) chr12:g.23665471G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.23665471G>A , CM000674.2:g.23665471G>A GRCh38
NC_000012.11:g.23818405G>A , CM000674.1:g.23818405G>A GRCh37
NC_000012.10:g.23709672G>A NCBI36
NG_029612.1:g.901976C>T
NG_029612.2:g.901976C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000704298.1:c.865C>T ENSP00000515822.1:p.Pro289Ser
ENST00000704299.1:c.760C>T ENSP00000515823.1:p.Pro254Ser
ENST00000451604.7:c.904C>T MANE Select ENSP00000398273.2:p.Pro302Ser
ENST00000646273.1:c.865C>T ENSP00000493866.1:p.Pro289Ser
ENST00000367206.7:c.874C>T ENSP00000356174.3:p.Pro292Ser
ENST00000381381.6:c.865C>T ENSP00000370788.2:p.Pro289Ser
ENST00000451604.6:c.904C>T ENSP00000398273.2:p.Pro302Ser
ENST00000535530.5:n.228C>T
ENST00000536629.5:n.284C>T
ENST00000536911.1:n.129C>T
ENST00000537393.5:c.799C>T ENSP00000439832.1:p.Pro267Ser
ENST00000541536.5:c.865C>T ENSP00000441973.1:p.Pro289Ser
ENST00000545921.5:c.874C>T ENSP00000443520.1:p.Pro292Ser
ENST00000546136.5:c.865C>T ENSP00000437487.1:p.Pro289Ser
NM_001261414.1:c.865C>T NP_001248343.1:p.Pro289Ser
NM_001261415.1:c.874C>T NP_001248344.1:p.Pro292Ser
NM_006940.4:c.904C>T NP_008871.3:p.Pro302Ser
NM_152989.3:c.865C>T NP_694534.1:p.Pro289Ser
XM_006719149.2:c.865C>T XP_006719212.1:p.Pro289Ser
XM_011520831.1:c.799C>T XP_011519133.1:p.Pro267Ser
XM_011520832.1:c.907C>T XP_011519134.1:p.Pro303Ser
XM_011520833.1:c.877C>T XP_011519135.1:p.Pro293Ser
XM_011520834.1:c.868C>T XP_011519136.1:p.Pro290Ser
XM_011520835.1:c.868C>T XP_011519137.1:p.Pro290Ser
XM_011520836.1:c.868C>T XP_011519138.1:p.Pro290Ser
XM_011520837.1:c.868C>T XP_011519139.1:p.Pro290Ser
XM_011520838.1:c.802C>T XP_011519140.1:p.Pro268Ser
XM_011520839.1:c.760C>T XP_011519141.1:p.Pro254Ser
XM_011520840.1:c.70C>T XP_011519142.1:p.Pro24Ser
XM_011520841.1:c.70C>T XP_011519143.1:p.Pro24Ser
XM_011520843.1:c.70C>T XP_011519145.1:p.Pro24Ser
NM_001261414.2:c.865C>T NP_001248343.1:p.Pro289Ser
NM_001261415.2:c.874C>T NP_001248344.1:p.Pro292Ser
NM_001330785.1:c.799C>T NP_001317714.1:p.Pro267Ser
NM_006940.5:c.904C>T NP_008871.3:p.Pro302Ser
NM_152989.4:c.865C>T NP_694534.1:p.Pro289Ser
XM_011520832.2:c.907C>T XP_011519134.1:p.Pro303Ser
XM_011520833.2:c.877C>T XP_011519135.1:p.Pro293Ser
XM_011520834.2:c.868C>T XP_011519136.1:p.Pro290Ser
XM_011520835.2:c.868C>T XP_011519137.1:p.Pro290Ser
XM_011520837.2:c.868C>T XP_011519139.1:p.Pro290Ser
XM_011520838.2:c.802C>T XP_011519140.1:p.Pro268Ser
XM_017019888.1:c.994C>T XP_016875377.1:p.Pro332Ser
XM_017019889.1:c.991C>T XP_016875378.1:p.Pro331Ser
XM_017019890.1:c.868C>T XP_016875379.1:p.Pro290Ser
XM_017019891.1:c.868C>T XP_016875380.1:p.Pro290Ser
XM_017019892.1:c.868C>T XP_016875381.1:p.Pro290Ser
XM_017019893.1:c.868C>T XP_016875382.1:p.Pro290Ser
XM_017019894.1:c.868C>T XP_016875383.1:p.Pro290Ser
XM_017019895.1:c.868C>T XP_016875384.1:p.Pro290Ser
XM_017019896.1:c.865C>T XP_016875385.1:p.Pro289Ser
XM_017019897.1:c.763C>T XP_016875386.1:p.Pro255Ser
XM_017019898.1:c.760C>T XP_016875387.1:p.Pro254Ser
XM_017019899.1:c.760C>T XP_016875388.1:p.Pro254Ser
XM_017019900.1:c.760C>T XP_016875389.1:p.Pro254Ser
XM_017019901.1:c.760C>T XP_016875390.1:p.Pro254Ser
XM_017019902.1:c.907C>T XP_016875391.1:p.Pro303Ser
XM_017019903.1:c.904C>T XP_016875392.1:p.Pro302Ser
XM_024449150.1:c.868C>T XP_024304918.1:p.Pro290Ser
XM_024449151.1:c.868C>T XP_024304919.1:p.Pro290Ser
XM_024449152.1:c.868C>T XP_024304920.1:p.Pro290Ser
XM_024449153.1:c.868C>T XP_024304921.1:p.Pro290Ser
XM_024449154.1:c.868C>T XP_024304922.1:p.Pro290Ser
XM_024449155.1:c.868C>T XP_024304923.1:p.Pro290Ser
XM_024449157.1:c.868C>T XP_024304925.1:p.Pro290Ser
XM_024449158.1:c.868C>T XP_024304926.1:p.Pro290Ser
XM_024449159.1:c.868C>T XP_024304927.1:p.Pro290Ser
XM_024449160.1:c.865C>T XP_024304928.1:p.Pro289Ser
XM_024449161.1:c.865C>T XP_024304929.1:p.Pro289Ser
XM_024449163.1:c.763C>T XP_024304931.1:p.Pro255Ser
XM_024449164.1:c.763C>T XP_024304932.1:p.Pro255Ser
XM_024449165.1:c.763C>T XP_024304933.1:p.Pro255Ser
NM_006940.6:c.904C>T MANE Select NP_008871.3:p.Pro302Ser
NM_001261414.3:c.865C>T NP_001248343.1:p.Pro289Ser
NM_001330785.2:c.799C>T NP_001317714.1:p.Pro267Ser
NM_152989.5:c.865C>T NP_694534.1:p.Pro289Ser
NM_001261415.3:c.874C>T NP_001248344.1:p.Pro292Ser
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