Canonical Allele Identifier: CA368851347
Gene: SLC26A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779681T>A , CM000669.2:g.107779681T>A GRCh38
NC_000007.13:g.107420126T>A , CM000669.1:g.107420126T>A GRCh37
NC_000007.12:g.107207362T>A NCBI36
NG_008046.1:g.28553A>T , LRG_683:g.28553A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340010.10:c.1394A>T MANE Select ENSP00000345873.5:p.Asp465Val
ENST00000340010.9:c.1394A>T ENSP00000345873.5:p.Asp465Val
ENST00000379083.7:c.*1185A>T ENSP00000368375.3:n.*1185A>T
NM_000111.2:c.1394A>T , LRG_683t1:c.1394A>T NP_000102.1:p.Asp465Val
XM_011515867.1:c.1394A>T XP_011514169.1:p.Asp465Val
NM_000111.3:c.1394A>T MANE Select NP_000102.1:p.Asp465Val