Canonical Allele Identifier: CA2651546217

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-760786-T-TTGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760787_760791dup , CM000682.2:g.760787_760791dup	GRCh38
NC_000020.10:g.741431_741435dup , CM000682.1:g.741431_741435dup	GRCh37
NC_000020.9:g.689431_689435dup	NCBI36
NG_027687.1:g.12794_12798dup
NG_027687.2:g.20195_20199dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*859_*863dup	ENSP00000371370.3:n.*859_*863dup
ENST00000473664.2:c.*128_*132dup	ENSP00000502741.1:n.*128_*132dup
ENST00000488495.3:c.*235_*239dup	ENSP00000494009.1:n.*235_*239dup
ENST00000645534.1:c.*235_*239dup MANE Select	ENSP00000494193.1:n.*235_*239dup
ENST00000217254.11:c.*235_*239dup	ENSP00000217254.7:n.*235_*239dup
ENST00000381944.4:c.*859_*863dup	ENSP00000371370.3:n.*859_*863dup
ENST00000632431.1:c.*235_*239dup	ENSP00000488723.1:n.*235_*239dup
NM_033409.3:c.*235_*239dup	NP_212134.3:n.*235_*239dup
XM_005260655.3:c.*235_*239dup	XP_005260712.1:n.*235_*239dup
XM_011529148.1:c.*235_*239dup	XP_011527450.1:n.*235_*239dup
XM_005260655.4:c.*235_*239dup	XP_005260712.1:n.*235_*239dup
XM_024451821.1:c.*235_*239dup	XP_024307589.1:n.*235_*239dup
NM_033409.4:c.*235_*239dup MANE Select	NP_212134.3:n.*235_*239dup
NM_001370085.1:c.*235_*239dup	NP_001357014.1:n.*235_*239dup
NM_001370086.1:c.*235_*239dup	NP_001357015.1:n.*235_*239dup