Canonical Allele Identifier: CA368851357
Gene: SLC26A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107779685T>C , CM000669.2:g.107779685T>C GRCh38
NC_000007.13:g.107420130T>C , CM000669.1:g.107420130T>C GRCh37
NC_000007.12:g.107207366T>C NCBI36
NG_008046.1:g.28549A>G , LRG_683:g.28549A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340010.10:c.1390A>G MANE Select ENSP00000345873.5:p.Lys464Glu
ENST00000340010.9:c.1390A>G ENSP00000345873.5:p.Lys464Glu
ENST00000379083.7:c.*1181A>G ENSP00000368375.3:n.*1181A>G
NM_000111.2:c.1390A>G , LRG_683t1:c.1390A>G NP_000102.1:p.Lys464Glu
XM_011515867.1:c.1390A>G XP_011514169.1:p.Lys464Glu
NM_000111.3:c.1390A>G MANE Select NP_000102.1:p.Lys464Glu