Canonical Allele Identifier: CA413657848

Gene: SLC16A2

Linked Data

• dbSNP Id: rs1260738808
• gnomAD v3: X-74525760-T-C
• gnomAD v4: X-74525760-T-C
• MyVariant Identifiers: chrX:g.73745595T>C (hg19) ; chrX:g.74525760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74525760T>C , CM000685.2:g.74525760T>C	GRCh38
NC_000023.10:g.73745595T>C , CM000685.1:g.73745595T>C	GRCh37
NC_000023.9:g.73662320T>C	NCBI36
NG_011641.1:g.109511T>C
NG_011641.2:g.109511T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000587091.6:c.1037T>C MANE Select	ENSP00000465734.1:p.Val346Ala
ENST00000636771.1:c.946T>C
ENST00000587091.5:c.1037T>C	ENSP00000465734.1:p.Val346Ala
ENST00000590447.1:c.477T>C
NM_006517.4:c.1037T>C	NP_006508.2:p.Val346Ala
XM_005262294.1:c.1037T>C	XP_005262351.1:p.Val346Ala
XM_011531015.1:c.*41T>C	XP_011529317.1:n.*41T>C
NM_006517.5:c.1037T>C MANE Select	NP_006508.2:p.Val346Ala