Canonical Allele Identifier: CA368841187
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695938C>G , CM000669.2:g.107695938C>G GRCh38
NC_000007.13:g.107336383C>G , CM000669.1:g.107336383C>G GRCh37
NC_000007.12:g.107123619C>G NCBI36
NG_008489.1:g.40304C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1443C>G MANE Select ENSP00000494017.1:p.Ile481Met
ENST00000644846.1:c.154C>G
ENST00000265715.7:c.1443C>G ENSP00000265715.3:p.Ile481Met
ENST00000460748.1:n.546C>G
ENST00000477350.5:n.290C>G
ENST00000480841.5:n.292C>G
ENST00000497446.5:n.458C>G
NM_000441.1:c.1443C>G NP_000432.1:p.Ile481Met
XM_005250425.1:c.1443C>G XP_005250482.1:p.Ile481Met
XM_005250425.2:c.1443C>G XP_005250482.1:p.Ile481Met
XM_017012318.1:c.1365C>G XP_016867807.1:p.Ile455Met
NM_000441.2:c.1443C>G MANE Select NP_000432.1:p.Ile481Met