Canonical Allele Identifier: CA517464461
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs1485714848
gnomAD v2: X-73641826-T-C
gnomAD v3: X-74421991-T-C
gnomAD v4: X-74421991-T-C
MyVariant Identifiers: chrX:g.73641826T>C (hg19) chrX:g.74421991T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421991T>C , CM000685.2:g.74421991T>C GRCh38
NC_000023.10:g.73641826T>C , CM000685.1:g.73641826T>C GRCh37
NC_000023.9:g.73558551T>C NCBI36
NG_011641.1:g.5742T>C
NG_011641.2:g.5742T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.354T>C MANE Select ENSP00000465734.1:p.His118=
ENST00000636771.1:c.100T>C
ENST00000587091.5:c.354T>C ENSP00000465734.1:p.His118=
NM_006517.4:c.354T>C NP_006508.2:p.His118=
XM_005262294.1:c.354T>C XP_005262351.1:p.His118=
XM_011531015.1:c.354T>C XP_011529317.1:p.His118=
NM_006517.5:c.354T>C MANE Select NP_006508.2:p.His118=
Search 100 bp 5'
Search 100 bp 3'