Canonical Allele Identifier: CA368845902
Gene: SLC26A4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107710138C>A , CM000669.2:g.107710138C>A GRCh38
NC_000007.13:g.107350583C>A , CM000669.1:g.107350583C>A GRCh37
NC_000007.12:g.107137819C>A NCBI36
NG_008489.1:g.54504C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.2174C>A MANE Select ENSP00000494017.1:p.Ala725Asp
ENST00000644846.1:c.830C>A
ENST00000265715.7:c.2174C>A ENSP00000265715.3:p.Ala725Asp
ENST00000492030.2:n.377-17C>A
NM_000441.1:c.2174C>A NP_000432.1:p.Ala725Asp
XM_005250425.1:c.2174C>A XP_005250482.1:p.Ala725Asp
XM_005250425.2:c.2174C>A XP_005250482.1:p.Ala725Asp
XM_017012318.1:c.2096C>A XP_016867807.1:p.Ala699Asp
NM_000441.2:c.2174C>A MANE Select NP_000432.1:p.Ala725Asp