Canonical Allele Identifier: CA746663183

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1173904805
• gnomAD v3: 20-760907-T-TG
• gnomAD v4: 20-760907-T-TG
• MyVariant Identifiers: chr20:g.741551_741552insG (hg19) ; chr20:g.760907_760908insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760908dup , CM000682.2:g.760908dup	GRCh38
NC_000020.10:g.741552dup , CM000682.1:g.741552dup	GRCh37
NC_000020.9:g.689552dup	NCBI36
NG_027687.1:g.12677dup
NG_027687.2:g.20078dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*742dup	ENSP00000371370.3:n.*742dup
ENST00000473664.2:c.*11dup	ENSP00000502741.1:n.*11dup
ENST00000488495.3:c.*118dup	ENSP00000494009.1:n.*118dup
ENST00000645534.1:c.*118dup MANE Select	ENSP00000494193.1:n.*118dup
ENST00000217254.11:c.*118dup	ENSP00000217254.7:n.*118dup
ENST00000381944.4:c.*742dup	ENSP00000371370.3:n.*742dup
ENST00000632431.1:c.*118dup	ENSP00000488723.1:n.*118dup
NM_033409.3:c.*118dup	NP_212134.3:n.*118dup
XM_005260655.3:c.*118dup	XP_005260712.1:n.*118dup
XM_011529148.1:c.*118dup	XP_011527450.1:n.*118dup
XM_005260655.4:c.*118dup	XP_005260712.1:n.*118dup
XM_024451821.1:c.*118dup	XP_024307589.1:n.*118dup
NM_033409.4:c.*118dup MANE Select	NP_212134.3:n.*118dup
NM_001370085.1:c.*118dup	NP_001357014.1:n.*118dup
NM_001370086.1:c.*118dup	NP_001357015.1:n.*118dup