Canonical Allele Identifier: CA368841189
Gene: SLC26A4 HGNC NCBI

Linked Data

dbSNP Id: rs2129317141

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107695939T>C , CM000669.2:g.107695939T>C GRCh38
NC_000007.13:g.107336384T>C , CM000669.1:g.107336384T>C GRCh37
NC_000007.12:g.107123620T>C NCBI36
NG_008489.1:g.40305T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1444T>C MANE Select ENSP00000494017.1:p.Trp482Arg
ENST00000644846.1:c.155T>C
ENST00000265715.7:c.1444T>C ENSP00000265715.3:p.Trp482Arg
ENST00000460748.1:n.547T>C
ENST00000477350.5:n.291T>C
ENST00000480841.5:n.293T>C
ENST00000497446.5:n.459T>C
NM_000441.1:c.1444T>C NP_000432.1:p.Trp482Arg
XM_005250425.1:c.1444T>C XP_005250482.1:p.Trp482Arg
XM_005250425.2:c.1444T>C XP_005250482.1:p.Trp482Arg
XM_017012318.1:c.1366T>C XP_016867807.1:p.Trp456Arg
NM_000441.2:c.1444T>C MANE Select NP_000432.1:p.Trp482Arg