Canonical Allele Identifier: CA413655862
Gene: SLC16A2 HGNC NCBI

Linked Data

gnomAD v4: X-74421779-C-A
MyVariant Identifiers: chrX:g.73641614C>A (hg19) chrX:g.74421779C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421779C>A , CM000685.2:g.74421779C>A GRCh38
NC_000023.10:g.73641614C>A , CM000685.1:g.73641614C>A GRCh37
NC_000023.9:g.73558339C>A NCBI36
NG_011641.1:g.5530C>A
NG_011641.2:g.5530C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.142C>A MANE Select ENSP00000465734.1:p.Pro48Thr
ENST00000587091.5:c.142C>A ENSP00000465734.1:p.Pro48Thr
NM_006517.4:c.142C>A NP_006508.2:p.Pro48Thr
XM_005262294.1:c.142C>A XP_005262351.1:p.Pro48Thr
XM_011531015.1:c.142C>A XP_011529317.1:p.Pro48Thr
NM_006517.5:c.142C>A MANE Select NP_006508.2:p.Pro48Thr
Search 100 bp 5'
Search 100 bp 3'