Canonical Allele Identifier: CA407962054

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1359318796
• gnomAD v2: 20-741845-T-C
• gnomAD v4: 20-761201-T-C
• MyVariant Identifiers: chr20:g.741845T>C (hg19) ; chr20:g.761201T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761201T>C , CM000682.2:g.761201T>C	GRCh38
NC_000020.10:g.741845T>C , CM000682.1:g.741845T>C	GRCh37
NC_000020.9:g.689845T>C	NCBI36
NG_027687.1:g.12384A>G
NG_027687.2:g.19785A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*449A>G	ENSP00000371370.3:n.*449A>G
ENST00000473664.2:c.729A>G	ENSP00000502741.1:p.Leu243=
ENST00000488495.3:c.1235A>G	ENSP00000494009.1:p.Tyr412Cys
ENST00000645534.1:c.1235A>G MANE Select	ENSP00000494193.1:p.Tyr412Cys
ENST00000217254.11:c.1235A>G	ENSP00000217254.7:p.Tyr412Cys
ENST00000381944.4:c.*449A>G	ENSP00000371370.3:n.*449A>G
ENST00000473664.1:n.780A>G
ENST00000632431.1:c.1235A>G	ENSP00000488723.1:p.Tyr412Cys
NM_033409.3:c.1235A>G	NP_212134.3:p.Tyr412Cys
XM_005260655.3:c.1235A>G	XP_005260712.1:p.Tyr412Cys
XM_011529148.1:c.1235A>G	XP_011527450.1:p.Tyr412Cys
XM_005260655.4:c.1235A>G	XP_005260712.1:p.Tyr412Cys
XM_024451821.1:c.1235A>G	XP_024307589.1:p.Tyr412Cys
NM_033409.4:c.1235A>G MANE Select	NP_212134.3:p.Tyr412Cys
NM_001370085.1:c.1235A>G	NP_001357014.1:p.Tyr412Cys
NM_001370086.1:c.1235A>G	NP_001357015.1:p.Tyr412Cys