Canonical Allele Identifier: CA126855
Gene: SLC26A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 16759
dbSNP Id: rs121913032

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107791059C>A , CM000669.2:g.107791059C>A GRCh38
NC_000007.13:g.107431504C>A , CM000669.1:g.107431504C>A GRCh37
NC_000007.12:g.107218740C>A NCBI36
NG_008046.1:g.17175G>T , LRG_683:g.17175G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.559G>T MANE Select ENSP00000345873.5:p.Gly187Ter
ENST00000340010.9:c.559G>T ENSP00000345873.5:p.Gly187Ter
ENST00000379083.7:c.*350G>T ENSP00000368375.3:n.*350G>T
NM_000111.2:c.559G>T , LRG_683t1:c.559G>T NP_000102.1:p.Gly187Ter
XM_011515867.1:c.559G>T XP_011514169.1:p.Gly187Ter
NM_000111.3:c.559G>T MANE Select NP_000102.1:p.Gly187Ter