Canonical Allele Identifier: CA935464542

Gene: SOX6

Linked Data

• dbSNP Id: rs192054584
• gnomAD v3: 11-16382016-T-A
• gnomAD v4: 11-16382016-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16382016T>A , CM000673.2:g.16382016T>A	GRCh38
NC_000011.9:g.16403562T>A , CM000673.1:g.16403562T>A	GRCh37
NC_000011.8:g.16360138T>A	NCBI36
NG_012881.1:g.99374A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527619.6:c.-5+20643A>T	ENSP00000434455.2:n.-5+20643A>T
ENST00000655819.1:c.5+20643A>T	ENSP00000499737.1:n.5+20643A>T
ENST00000396356.7:c.-4-40764A>T	ENSP00000379644.3:n.-4-40764A>T
ENST00000526673.1:c.-5+272A>T	ENSP00000434892.1:n.-5+272A>T
ENST00000527619.5:c.5+20643A>T	ENSP00000434455.1:n.5+20643A>T
ENST00000528252.5:c.-5+26682A>T	ENSP00000432134.1:n.-5+26682A>T
ENST00000528429.5:c.-5+20784A>T	ENSP00000433233.1:n.-5+20784A>T
ENST00000529469.1:c.-4-40764A>T	ENSP00000432596.1:n.-4-40764A>T
ENST00000530378.5:c.-4-40764A>T	ENSP00000432577.1:n.-4-40764A>T
ENST00000533411.5:c.-5+15442A>T	ENSP00000436170.1:n.-5+15442A>T
ENST00000533658.5:n.334-40764A>T
NM_001145811.1:c.-5+26682A>T	NP_001139283.1:n.-5+26682A>T
NM_001145819.1:c.35+20784A>T	NP_001139291.1:n.35+20784A>T
NM_017508.2:c.5+20643A>T	NP_059978.1:n.5+20643A>T
NM_033326.3:c.-4-40764A>T	NP_201583.2:n.-4-40764A>T
NM_001145811.2:c.-5+26682A>T	NP_001139283.1:n.-5+26682A>T
NM_001145819.2:c.-5+20784A>T	NP_001139291.2:n.-5+20784A>T
NM_001367872.1:c.-4-40764A>T	NP_001354801.1:n.-4-40764A>T
NM_017508.3:c.-5+20643A>T	NP_059978.2:n.-5+20643A>T