Canonical Allele Identifier: CA413656328

Gene: SLC16A2

Linked Data

• gnomAD v3: X-74421998-G-T
• gnomAD v4: X-74421998-G-T
• MyVariant Identifiers: chrX:g.73641833G>T (hg19) ; chrX:g.74421998G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74421998G>T , CM000685.2:g.74421998G>T	GRCh38
NC_000023.10:g.73641833G>T , CM000685.1:g.73641833G>T	GRCh37
NC_000023.9:g.73558558G>T	NCBI36
NG_011641.1:g.5749G>T
NG_011641.2:g.5749G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587091.6:c.361G>T MANE Select	ENSP00000465734.1:p.Val121Phe
ENST00000636771.1:c.107G>T
ENST00000587091.5:c.361G>T	ENSP00000465734.1:p.Val121Phe
NM_006517.4:c.361G>T	NP_006508.2:p.Val121Phe
XM_005262294.1:c.361G>T	XP_005262351.1:p.Val121Phe
XM_011531015.1:c.361G>T	XP_011529317.1:p.Val121Phe
NM_006517.5:c.361G>T MANE Select	NP_006508.2:p.Val121Phe