Canonical Allele Identifier: CA16042657
Gene: SLC26A4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372827
ClinVar RCV Id: RCV000413685
dbSNP Id: rs1057518006

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107689136C>A , CM000669.2:g.107689136C>A GRCh38
NC_000007.13:g.107329581C>A , CM000669.1:g.107329581C>A GRCh37
NC_000007.12:g.107116817C>A NCBI36
NG_008489.1:g.33502C>A

Transcript Alleles

HGVS Amino-acid change
NM_000441.1:c.1085C>A VV NP_000432.1:p.Ala362Asp
XM_005250425.1:c.1085C>A XP_005250482.1:p.Ala362Asp
XM_006716025.2:c.1085C>A XP_006716088.1:p.Ala362Asp
XM_005250425.2:c.1085C>A XP_005250482.1:p.Ala362Asp
XM_006716025.3:c.1085C>A XP_006716088.1:p.Ala362Asp
XM_017012318.1:c.1085C>A XP_016867807.1:p.Ala362Asp
ENST00000265715.7:c.1085C>A ENSP00000265715.3:p.Ala362Asp