Canonical Allele Identifier: CA2505957892

Gene: SOX6

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16382014A>G , CM000673.2:g.16382014A>G	GRCh38
NC_000011.9:g.16403560A>G , CM000673.1:g.16403560A>G	GRCh37
NC_000011.8:g.16360136A>G	NCBI36
NG_012881.1:g.99376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527619.6:c.-5+20645T>C	ENSP00000434455.2:n.-5+20645T>C
ENST00000655819.1:c.5+20645T>C	ENSP00000499737.1:n.5+20645T>C
ENST00000396356.7:c.-4-40762T>C	ENSP00000379644.3:n.-4-40762T>C
ENST00000526673.1:c.-5+274T>C	ENSP00000434892.1:n.-5+274T>C
ENST00000527619.5:c.5+20645T>C	ENSP00000434455.1:n.5+20645T>C
ENST00000528252.5:c.-5+26684T>C	ENSP00000432134.1:n.-5+26684T>C
ENST00000528429.5:c.-5+20786T>C	ENSP00000433233.1:n.-5+20786T>C
ENST00000529469.1:c.-4-40762T>C	ENSP00000432596.1:n.-4-40762T>C
ENST00000530378.5:c.-4-40762T>C	ENSP00000432577.1:n.-4-40762T>C
ENST00000533411.5:c.-5+15444T>C	ENSP00000436170.1:n.-5+15444T>C
ENST00000533658.5:n.334-40762T>C
NM_001145811.1:c.-5+26684T>C	NP_001139283.1:n.-5+26684T>C
NM_001145819.1:c.35+20786T>C	NP_001139291.1:n.35+20786T>C
NM_017508.2:c.5+20645T>C	NP_059978.1:n.5+20645T>C
NM_033326.3:c.-4-40762T>C	NP_201583.2:n.-4-40762T>C
NM_001145811.2:c.-5+26684T>C	NP_001139283.1:n.-5+26684T>C
NM_001145819.2:c.-5+20786T>C	NP_001139291.2:n.-5+20786T>C
NM_001367872.1:c.-4-40762T>C	NP_001354801.1:n.-4-40762T>C
NM_017508.3:c.-5+20645T>C	NP_059978.2:n.-5+20645T>C