Canonical Allele Identifier: CA368841192
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695940G>A , CM000669.2:g.107695940G>A GRCh38
NC_000007.13:g.107336385G>A , CM000669.1:g.107336385G>A GRCh37
NC_000007.12:g.107123621G>A NCBI36
NG_008489.1:g.40306G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1445G>A MANE Select ENSP00000494017.1:p.Trp482Ter
ENST00000644846.1:n.156G>A
ENST00000265715.7:c.1445G>A ENSP00000265715.3:p.Trp482Ter
ENST00000460748.1:n.548G>A
ENST00000477350.5:n.292G>A
ENST00000480841.5:n.294G>A
ENST00000497446.5:n.460G>A
NM_000441.1:c.1445G>A NP_000432.1:p.Trp482Ter
XM_005250425.1:c.1445G>A XP_005250482.1:p.Trp482Ter
XM_005250425.2:c.1445G>A XP_005250482.1:p.Trp482Ter
XM_017012318.1:c.1367G>A XP_016867807.1:p.Trp456Ter
NM_000441.2:c.1445G>A MANE Select NP_000432.1:p.Trp482Ter