Canonical Allele Identifier: CA9724634

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 2052671
• ClinVar RCV Id: RCV002937622
• dbSNP Id: rs781330617
• ExAC: 20:744220 A / G
• gnomAD v2: 20-744220-A-G
• gnomAD v3: 20-763576-A-G
• gnomAD v4: 20-763576-A-G
• MyVariant Identifiers: chr20:g.744220A>G (hg19) ; chr20:g.763576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763576A>G , CM000682.2:g.763576A>G	GRCh38
NC_000020.10:g.744220A>G , CM000682.1:g.744220A>G	GRCh37
NC_000020.9:g.692220A>G	NCBI36
NG_027687.1:g.10009T>C
NG_027687.2:g.17410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.995T>C	ENSP00000371370.3:p.Val332Ala
ENST00000473664.2:c.567+1632T>C	ENSP00000502741.1:n.567+1632T>C
ENST00000488495.3:c.995T>C	ENSP00000494009.1:p.Val332Ala
ENST00000645534.1:c.995T>C MANE Select	ENSP00000494193.1:p.Val332Ala
ENST00000675066.1:c.995T>C	ENSP00000501902.1:p.Val332Ala
ENST00000217254.11:c.995T>C	ENSP00000217254.7:p.Val332Ala
ENST00000381944.4:c.995T>C	ENSP00000371370.3:p.Val332Ala
ENST00000473664.1:n.618+1632T>C
ENST00000632431.1:c.995T>C	ENSP00000488723.1:p.Val332Ala
NM_033409.3:c.995T>C	NP_212134.3:p.Val332Ala
XM_005260655.3:c.995T>C	XP_005260712.1:p.Val332Ala
XM_011529148.1:c.995T>C	XP_011527450.1:p.Val332Ala
XM_005260655.4:c.995T>C	XP_005260712.1:p.Val332Ala
XM_024451821.1:c.995T>C	XP_024307589.1:p.Val332Ala
NM_033409.4:c.995T>C MANE Select	NP_212134.3:p.Val332Ala
NM_001370085.1:c.995T>C	NP_001357014.1:p.Val332Ala
NM_001370086.1:c.995T>C	NP_001357015.1:p.Val332Ala