Canonical Allele Identifier: CA10605240
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 285774
ClinVar RCV Id: RCV000358013
dbSNP Id: rs886043208

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701875G>A , CM000669.2:g.107701875G>A GRCh38
NC_000007.13:g.107342320G>A , CM000669.1:g.107342320G>A GRCh37
NC_000007.12:g.107129556G>A NCBI36
NG_008489.1:g.46241G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1852G>A MANE Select ENSP00000494017.1:p.Asp618Asn
ENST00000644846.1:n.563G>A
ENST00000265715.7:c.1852G>A ENSP00000265715.3:p.Asp618Asn
ENST00000480841.5:n.701G>A
ENST00000492030.2:n.139G>A
NM_000441.1:c.1852G>A NP_000432.1:p.Asp618Asn
XM_005250425.1:c.1852G>A XP_005250482.1:p.Asp618Asn
XM_005250425.2:c.1852G>A XP_005250482.1:p.Asp618Asn
XM_017012318.1:c.1774G>A XP_016867807.1:p.Asp592Asn
NM_000441.2:c.1852G>A MANE Select NP_000432.1:p.Asp618Asn