Canonical Allele Identifier: CA384321304

Gene: SOX5

Linked Data

• ClinVar Variation Id: 2444597
• ClinVar RCV Id: RCV003154116
• MyVariant Identifiers: chr12:g.24102533C>T (hg19) ; chr12:g.23949599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.23949599C>T , CM000674.2:g.23949599C>T	GRCh38
NC_000012.11:g.24102533C>T , CM000674.1:g.24102533C>T	GRCh37
NC_000012.10:g.23993800C>T	NCBI36
NG_029612.1:g.617848G>A
NG_029612.2:g.617848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704298.1:c.-1-53575G>A	ENSP00000515822.1:n.-1-53575G>A
ENST00000704299.1:c.-119-5311G>A	ENSP00000515823.1:n.-119-5311G>A
ENST00000704300.1:c.-1-53575G>A	ENSP00000515824.1:n.-1-53575G>A
ENST00000446891.7:c.-1-53575G>A	ENSP00000494627.1:n.-1-53575G>A
ENST00000451604.7:c.3G>A MANE Select	ENSP00000398273.2:p.Met1Ile
ENST00000536729.2:c.-1-53575G>A	ENSP00000496161.1:n.-1-53575G>A
ENST00000646273.1:c.-1-53575G>A	ENSP00000493866.1:n.-1-53575G>A
ENST00000659413.1:c.-1-53575G>A	ENSP00000499309.1:n.-1-53575G>A
ENST00000367206.7:c.8+1270G>A	ENSP00000356174.3:n.8+1270G>A
ENST00000381381.6:c.-37G>A	ENSP00000370788.2:n.-37G>A
ENST00000441133.2:c.3G>A	ENSP00000393240.2:p.Met1Ile
ENST00000451604.6:c.3G>A	ENSP00000398273.2:p.Met1Ile
ENST00000537393.5:c.3G>A	ENSP00000439832.1:p.Met1Ile
ENST00000541847.5:c.8+1270G>A	ENSP00000442119.1:n.8+1270G>A
ENST00000545921.5:c.8+1270G>A	ENSP00000443520.1:n.8+1270G>A
NM_001261414.1:c.-1-53575G>A	NP_001248343.1:n.-1-53575G>A
NM_001261415.1:c.8+1270G>A	NP_001248344.1:n.8+1270G>A
NM_006940.4:c.3G>A	NP_008871.3:p.Met1Ile
NM_152989.3:c.-1-53575G>A	NP_694534.1:n.-1-53575G>A
XM_006719149.2:c.-1-53575G>A	XP_006719212.1:n.-1-53575G>A
XM_011520831.1:c.3G>A	XP_011519133.1:p.Met1Ile
XM_011520832.1:c.3G>A	XP_011519134.1:p.Met1Ile
XM_011520833.1:c.8+1270G>A	XP_011519135.1:n.8+1270G>A
XM_011520834.1:c.-1-53575G>A	XP_011519136.1:n.-1-53575G>A
XM_011520835.1:c.-1-53575G>A	XP_011519137.1:n.-1-53575G>A
XM_011520836.1:c.1-53576G>A	XP_011519138.1:n.1-53576G>A
XM_011520838.1:c.3G>A	XP_011519140.1:p.Met1Ile
XM_011520839.1:c.-1-53575G>A	XP_011519141.1:n.-1-53575G>A
NM_001261414.2:c.-1-53575G>A	NP_001248343.1:n.-1-53575G>A
NM_001261415.2:c.8+1270G>A	NP_001248344.1:n.8+1270G>A
NM_001330785.1:c.3G>A	NP_001317714.1:p.Met1Ile
NM_006940.5:c.3G>A	NP_008871.3:p.Met1Ile
NM_152989.4:c.-1-53575G>A	NP_694534.1:n.-1-53575G>A
XM_011520832.2:c.3G>A	XP_011519134.1:p.Met1Ile
XM_011520833.2:c.8+1270G>A	XP_011519135.1:n.8+1270G>A
XM_011520834.2:c.-1-53575G>A	XP_011519136.1:n.-1-53575G>A
XM_011520835.2:c.-1-53575G>A	XP_011519137.1:n.-1-53575G>A
XM_011520838.2:c.3G>A	XP_011519140.1:p.Met1Ile
XM_017019888.1:c.195G>A	XP_016875377.1:p.Met65Ile
XM_017019889.1:c.195G>A	XP_016875378.1:p.Met65Ile
XM_017019890.1:c.-1-53575G>A	XP_016875379.1:n.-1-53575G>A
XM_017019891.1:c.-1-53575G>A	XP_016875380.1:n.-1-53575G>A
XM_017019892.1:c.-1-53575G>A	XP_016875381.1:n.-1-53575G>A
XM_017019893.1:c.-1-53575G>A	XP_016875382.1:n.-1-53575G>A
XM_017019894.1:c.-1-53575G>A	XP_016875383.1:n.-1-53575G>A
XM_017019895.1:c.-2+794G>A	XP_016875384.1:n.-2+794G>A
XM_017019896.1:c.-1-53575G>A	XP_016875385.1:n.-1-53575G>A
XM_017019897.1:c.-1-53575G>A	XP_016875386.1:n.-1-53575G>A
XM_017019898.1:c.-1-53575G>A	XP_016875387.1:n.-1-53575G>A
XM_017019899.1:c.-1-53575G>A	XP_016875388.1:n.-1-53575G>A
XM_017019900.1:c.-2+794G>A	XP_016875389.1:n.-2+794G>A
XM_017019902.1:c.3G>A	XP_016875391.1:p.Met1Ile
XM_017019903.1:c.3G>A	XP_016875392.1:p.Met1Ile
XM_024449150.1:c.-1-53575G>A	XP_024304918.1:n.-1-53575G>A
XM_024449151.1:c.-1-53575G>A	XP_024304919.1:n.-1-53575G>A
XM_024449152.1:c.-1-53575G>A	XP_024304920.1:n.-1-53575G>A
XM_024449153.1:c.-1-53575G>A	XP_024304921.1:n.-1-53575G>A
XM_024449154.1:c.-1-53575G>A	XP_024304922.1:n.-1-53575G>A
XM_024449155.1:c.-1-53575G>A	XP_024304923.1:n.-1-53575G>A
XM_024449157.1:c.-1-53575G>A	XP_024304925.1:n.-1-53575G>A
XM_024449158.1:c.-1-53575G>A	XP_024304926.1:n.-1-53575G>A
XM_024449159.1:c.-1-53575G>A	XP_024304927.1:n.-1-53575G>A
XM_024449160.1:c.-1-53575G>A	XP_024304928.1:n.-1-53575G>A
XM_024449161.1:c.-1-53575G>A	XP_024304929.1:n.-1-53575G>A
XM_024449163.1:c.-1-53575G>A	XP_024304931.1:n.-1-53575G>A
XM_024449164.1:c.-1-53575G>A	XP_024304932.1:n.-1-53575G>A
XM_024449165.1:c.-1-53575G>A	XP_024304933.1:n.-1-53575G>A
NM_006940.6:c.3G>A MANE Select	NP_008871.3:p.Met1Ile
NM_001261414.3:c.-1-53575G>A	NP_001248343.1:n.-1-53575G>A
NM_001330785.2:c.3G>A	NP_001317714.1:p.Met1Ile
NM_152989.5:c.-1-53575G>A	NP_694534.1:n.-1-53575G>A
NM_001261415.3:c.8+1270G>A	NP_001248344.1:n.8+1270G>A