Canonical Allele Identifier: CA674120001
Gene: SOX6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.16228637C>G , CM000673.2:g.16228637C>G GRCh38
NC_000011.9:g.16250183C>G , CM000673.1:g.16250183C>G GRCh37
NC_000011.8:g.16206759C>G NCBI36
NG_012881.1:g.252753G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683767.1:c.535+5945G>C MANE Select ENSP00000507545.1:n.535+5945G>C
ENST00000527619.6:c.535+5945G>C ENSP00000434455.2:n.535+5945G>C
ENST00000655819.1:c.544+5945G>C ENSP00000499737.1:n.544+5945G>C
ENST00000316399.10:c.535+5945G>C ENSP00000324948.6:n.535+5945G>C
ENST00000396356.7:c.535+5945G>C ENSP00000379644.3:n.535+5945G>C
ENST00000527619.5:c.544+5945G>C ENSP00000434455.1:n.544+5945G>C
ENST00000528252.5:c.535+5945G>C ENSP00000432134.1:n.535+5945G>C
ENST00000528429.5:c.535+5945G>C ENSP00000433233.1:n.535+5945G>C
ENST00000531297.1:n.254+5945G>C
NM_001145811.1:c.535+5945G>C NP_001139283.1:n.535+5945G>C
NM_001145819.1:c.574+5945G>C NP_001139291.1:n.574+5945G>C
NM_017508.2:c.544+5945G>C NP_059978.1:n.544+5945G>C
NM_033326.3:c.535+5945G>C NP_201583.2:n.535+5945G>C
NM_001145811.2:c.535+5945G>C NP_001139283.1:n.535+5945G>C
NM_001145819.2:c.535+5945G>C NP_001139291.2:n.535+5945G>C
NM_001367872.1:c.535+5945G>C NP_001354801.1:n.535+5945G>C
NM_001367873.1:c.535+5945G>C MANE Select NP_001354802.1:n.535+5945G>C
NM_017508.3:c.535+5945G>C NP_059978.2:n.535+5945G>C