Canonical Allele Identifier: CA368841176
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695933G>A , CM000669.2:g.107695933G>A GRCh38
NC_000007.13:g.107336378G>A , CM000669.1:g.107336378G>A GRCh37
NC_000007.12:g.107123614G>A NCBI36
NG_008489.1:g.40299G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1438G>A MANE Select ENSP00000494017.1:p.Val480Ile
ENST00000644846.1:n.149G>A
ENST00000265715.7:c.1438G>A ENSP00000265715.3:p.Val480Ile
ENST00000460748.1:n.541G>A
ENST00000477350.5:n.285G>A
ENST00000480841.5:n.287G>A
ENST00000497446.5:n.453G>A
NM_000441.1:c.1438G>A NP_000432.1:p.Val480Ile
XM_005250425.1:c.1438G>A XP_005250482.1:p.Val480Ile
XM_005250425.2:c.1438G>A XP_005250482.1:p.Val480Ile
XM_017012318.1:c.1360G>A XP_016867807.1:p.Val454Ile
NM_000441.2:c.1438G>A MANE Select NP_000432.1:p.Val480Ile