Canonical Allele Identifier: CA16041115
Gene: SLC26A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 371298
ClinVar RCV Id: RCV000410627
dbSNP Id: rs1057517161

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.107701972T>A , CM000669.2:g.107701972T>A GRCh38
NC_000007.13:g.107342417T>A , CM000669.1:g.107342417T>A GRCh37
NC_000007.12:g.107129653T>A NCBI36
NG_008489.1:g.46338T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644269.2:c.1949T>A MANE Select ENSP00000494017.1:p.Val650Asp
ENST00000644846.1:c.660T>A
ENST00000265715.7:c.1949T>A ENSP00000265715.3:p.Val650Asp
ENST00000492030.2:n.236T>A
NM_000441.1:c.1949T>A NP_000432.1:p.Val650Asp
XM_005250425.1:c.1949T>A XP_005250482.1:p.Val650Asp
XM_005250425.2:c.1949T>A XP_005250482.1:p.Val650Asp
XM_017012318.1:c.1871T>A XP_016867807.1:p.Val624Asp
NM_000441.2:c.1949T>A MANE Select NP_000432.1:p.Val650Asp