Canonical Allele Identifier: CA331283900

Gene: SLC16A2

Linked Data

• dbSNP Id: rs761703179
• gnomAD v3: X-74525670-A-T
• gnomAD v4: X-74525670-A-T
• MyVariant Identifiers: chrX:g.73745505A>T (hg19) ; chrX:g.74525670A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74525670A>T , CM000685.2:g.74525670A>T	GRCh38
NC_000023.10:g.73745505A>T , CM000685.1:g.73745505A>T	GRCh37
NC_000023.9:g.73662230A>T	NCBI36
NG_011641.1:g.109421A>T
NG_011641.2:g.109421A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.1027-80A>T MANE Select	ENSP00000465734.1:n.1027-80A>T
ENST00000636771.1:c.936-80A>T
ENST00000587091.5:c.1027-80A>T	ENSP00000465734.1:n.1027-80A>T
ENST00000590447.1:c.467-80A>T
NM_006517.4:c.1027-80A>T	NP_006508.2:n.1027-80A>T
XM_005262294.1:c.1027-80A>T	XP_005262351.1:n.1027-80A>T
XM_011531015.1:c.*31-80A>T	XP_011529317.1:n.*31-80A>T
NM_006517.5:c.1027-80A>T MANE Select	NP_006508.2:n.1027-80A>T