Canonical Allele Identifier: CA2651546376

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-760949-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760949T>C , CM000682.2:g.760949T>C	GRCh38
NC_000020.10:g.741593T>C , CM000682.1:g.741593T>C	GRCh37
NC_000020.9:g.689593T>C	NCBI36
NG_027687.1:g.12636A>G
NG_027687.2:g.20037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*701A>G	ENSP00000371370.3:n.*701A>G
ENST00000473664.2:c.981A>G	ENSP00000502741.1:p.Ala327=
ENST00000488495.3:c.*77A>G	ENSP00000494009.1:n.*77A>G
ENST00000645534.1:c.*77A>G MANE Select	ENSP00000494193.1:n.*77A>G
ENST00000217254.11:c.*77A>G	ENSP00000217254.7:n.*77A>G
ENST00000381944.4:c.*701A>G	ENSP00000371370.3:n.*701A>G
ENST00000632431.1:c.*77A>G	ENSP00000488723.1:n.*77A>G
NM_033409.3:c.*77A>G	NP_212134.3:n.*77A>G
XM_005260655.3:c.*77A>G	XP_005260712.1:n.*77A>G
XM_011529148.1:c.*77A>G	XP_011527450.1:n.*77A>G
XM_005260655.4:c.*77A>G	XP_005260712.1:n.*77A>G
XM_024451821.1:c.*77A>G	XP_024307589.1:n.*77A>G
NM_033409.4:c.*77A>G MANE Select	NP_212134.3:n.*77A>G
NM_001370085.1:c.*77A>G	NP_001357014.1:n.*77A>G
NM_001370086.1:c.*77A>G	NP_001357015.1:n.*77A>G