Canonical Allele Identifier: CA368841184
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695937T>A , CM000669.2:g.107695937T>A GRCh38
NC_000007.13:g.107336382T>A , CM000669.1:g.107336382T>A GRCh37
NC_000007.12:g.107123618T>A NCBI36
NG_008489.1:g.40303T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1442T>A MANE Select ENSP00000494017.1:p.Ile481Asn
ENST00000644846.1:c.153T>A
ENST00000265715.7:c.1442T>A ENSP00000265715.3:p.Ile481Asn
ENST00000460748.1:n.545T>A
ENST00000477350.5:n.289T>A
ENST00000480841.5:n.291T>A
ENST00000497446.5:n.457T>A
NM_000441.1:c.1442T>A NP_000432.1:p.Ile481Asn
XM_005250425.1:c.1442T>A XP_005250482.1:p.Ile481Asn
XM_005250425.2:c.1442T>A XP_005250482.1:p.Ile481Asn
XM_017012318.1:c.1364T>A XP_016867807.1:p.Ile455Asn
NM_000441.2:c.1442T>A MANE Select NP_000432.1:p.Ile481Asn