Canonical Allele Identifier: CA517464505
Gene: SLC16A2 HGNC NCBI

Linked Data

gnomAD v3: X-74422006-C-T
gnomAD v4: X-74422006-C-T
MyVariant Identifiers: chrX:g.73641841C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74422006C>T , CM000685.2:g.74422006C>T GRCh38
NC_000023.10:g.73641841C>T , CM000685.1:g.73641841C>T GRCh37
NC_000023.9:g.73558566C>T NCBI36
NG_011641.1:g.5757C>T
NG_011641.2:g.5757C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000587091.6:c.369C>T MANE Select ENSP00000465734.1:p.Ile123=
ENST00000636771.1:c.115C>T
ENST00000587091.5:c.369C>T ENSP00000465734.1:p.Ile123=
NM_006517.4:c.369C>T NP_006508.2:p.Ile123=
XM_005262294.1:c.369C>T XP_005262351.1:p.Ile123=
XM_011531015.1:c.369C>T XP_011529317.1:p.Ile123=
NM_006517.5:c.369C>T MANE Select NP_006508.2:p.Ile123=
Search 100 bp 5'
Search 100 bp 3'