Canonical Allele Identifier: CA368841196
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695942G>A , CM000669.2:g.107695942G>A GRCh38
NC_000007.13:g.107336387G>A , CM000669.1:g.107336387G>A GRCh37
NC_000007.12:g.107123623G>A NCBI36
NG_008489.1:g.40308G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1447G>A MANE Select ENSP00000494017.1:p.Val483Met
ENST00000644846.1:n.158G>A
ENST00000265715.7:c.1447G>A ENSP00000265715.3:p.Val483Met
ENST00000460748.1:n.550G>A
ENST00000477350.5:n.294G>A
ENST00000480841.5:n.296G>A
ENST00000497446.5:n.462G>A
NM_000441.1:c.1447G>A NP_000432.1:p.Val483Met
XM_005250425.1:c.1447G>A XP_005250482.1:p.Val483Met
XM_005250425.2:c.1447G>A XP_005250482.1:p.Val483Met
XM_017012318.1:c.1369G>A XP_016867807.1:p.Val457Met
NM_000441.2:c.1447G>A MANE Select NP_000432.1:p.Val483Met