Canonical Allele Identifier: CA132683
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 43526
dbSNP Id: rs17154335

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701849T>G , CM000669.2:g.107701849T>G GRCh38
NC_000007.13:g.107342294T>G , CM000669.1:g.107342294T>G GRCh37
NC_000007.12:g.107129530T>G NCBI36
NG_008489.1:g.46215T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644269.2:c.1826T>G MANE Select ENSP00000494017.1:p.Val609Gly
ENST00000644846.1:c.537T>G
ENST00000265715.7:c.1826T>G ENSP00000265715.3:p.Val609Gly
ENST00000480841.5:n.675T>G
ENST00000492030.2:n.113T>G
NM_000441.1:c.1826T>G NP_000432.1:p.Val609Gly
XM_005250425.1:c.1826T>G XP_005250482.1:p.Val609Gly
XM_005250425.2:c.1826T>G XP_005250482.1:p.Val609Gly
XM_017012318.1:c.1748T>G XP_016867807.1:p.Val583Gly
NM_000441.2:c.1826T>G MANE Select NP_000432.1:p.Val609Gly