Canonical Allele Identifier: CA517464298
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1928302604
gnomAD v4: X-74421796-G-A
MyVariant Identifiers: chrX:g.73641631G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421796G>A , CM000685.2:g.74421796G>A GRCh38
NC_000023.10:g.73641631G>A , CM000685.1:g.73641631G>A GRCh37
NC_000023.9:g.73558356G>A NCBI36
NG_011641.1:g.5547G>A
NG_011641.2:g.5547G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.159G>A MANE Select ENSP00000465734.1:p.Pro53=
ENST00000587091.5:c.159G>A ENSP00000465734.1:p.Pro53=
NM_006517.4:c.159G>A NP_006508.2:p.Pro53=
XM_005262294.1:c.159G>A XP_005262351.1:p.Pro53=
XM_011531015.1:c.159G>A XP_011529317.1:p.Pro53=
NM_006517.5:c.159G>A MANE Select NP_006508.2:p.Pro53=