Canonical Allele Identifier: CA274302
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 189039
dbSNP Id: rs146281367

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107683537G>T , CM000669.2:g.107683537G>T GRCh38
NC_000007.13:g.107323982G>T , CM000669.1:g.107323982G>T GRCh37
NC_000007.12:g.107111218G>T NCBI36
NG_008489.1:g.27903G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1001G>T MANE Select ENSP00000494017.1:p.Gly334Val
ENST00000265715.7:c.1001G>T ENSP00000265715.3:p.Gly334Val
NM_000441.1:c.1001G>T NP_000432.1:p.Gly334Val
XM_005250425.1:c.1001G>T XP_005250482.1:p.Gly334Val
XM_006716025.2:c.1001G>T XP_006716088.1:p.Gly334Val
XM_005250425.2:c.1001G>T XP_005250482.1:p.Gly334Val
XM_006716025.3:c.1001G>T XP_006716088.1:p.Gly334Val
XM_017012318.1:c.1001G>T XP_016867807.1:p.Gly334Val
NM_000441.2:c.1001G>T MANE Select NP_000432.1:p.Gly334Val