Canonical Allele Identifier: CA368843254
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701870A>T , CM000669.2:g.107701870A>T GRCh38
NC_000007.13:g.107342315A>T , CM000669.1:g.107342315A>T GRCh37
NC_000007.12:g.107129551A>T NCBI36
NG_008489.1:g.46236A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1847A>T MANE Select ENSP00000494017.1:p.Glu616Val
ENST00000644846.1:c.558A>T
ENST00000265715.7:c.1847A>T ENSP00000265715.3:p.Glu616Val
ENST00000480841.5:n.696A>T
ENST00000492030.2:n.134A>T
NM_000441.1:c.1847A>T NP_000432.1:p.Glu616Val
XM_005250425.1:c.1847A>T XP_005250482.1:p.Glu616Val
XM_005250425.2:c.1847A>T XP_005250482.1:p.Glu616Val
XM_017012318.1:c.1769A>T XP_016867807.1:p.Glu590Val
NM_000441.2:c.1847A>T MANE Select NP_000432.1:p.Glu616Val