Canonical Allele Identifier: CA10627905
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 358494
dbSNP Id: rs886061883

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107672204T>A , CM000669.2:g.107672204T>A GRCh38
NC_000007.13:g.107312649T>A , CM000669.1:g.107312649T>A GRCh37
NC_000007.12:g.107099885T>A NCBI36
NG_008489.1:g.16570T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.371T>A MANE Select ENSP00000494017.1:p.Ile124Asn
ENST00000265715.7:c.371T>A ENSP00000265715.3:p.Ile124Asn
ENST00000440056.1:c.371T>A ENSP00000394760.1:p.Ile124Asn
NM_000441.1:c.371T>A NP_000432.1:p.Ile124Asn
XM_005250425.1:c.371T>A XP_005250482.1:p.Ile124Asn
XM_006716025.2:c.371T>A XP_006716088.1:p.Ile124Asn
XM_005250425.2:c.371T>A XP_005250482.1:p.Ile124Asn
XM_006716025.3:c.371T>A XP_006716088.1:p.Ile124Asn
XM_017012318.1:c.371T>A XP_016867807.1:p.Ile124Asn
NM_000441.2:c.371T>A MANE Select NP_000432.1:p.Ile124Asn