Canonical Allele Identifier: CA10454377
Gene: SLC16A2 HGNC NCBI

Linked Data

dbSNP Id: rs745829608
ExAC: X:73641613 C / T
gnomAD v2: X-73641613-C-T
gnomAD v4: X-74421778-C-T
MyVariant Identifiers: chrX:g.73641613C>T (hg19) chrX:g.74421778C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74421778C>T , CM000685.2:g.74421778C>T GRCh38
NC_000023.10:g.73641613C>T , CM000685.1:g.73641613C>T GRCh37
NC_000023.9:g.73558338C>T NCBI36
NG_011641.1:g.5529C>T
NG_011641.2:g.5529C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.141C>T MANE Select ENSP00000465734.1:p.Pro47=
ENST00000587091.5:c.141C>T ENSP00000465734.1:p.Pro47=
NM_006517.4:c.141C>T NP_006508.2:p.Pro47=
XM_005262294.1:c.141C>T XP_005262351.1:p.Pro47=
XM_011531015.1:c.141C>T XP_011529317.1:p.Pro47=
NM_006517.5:c.141C>T MANE Select NP_006508.2:p.Pro47=
Search 100 bp 5'
Search 100 bp 3'