Canonical Allele Identifier: CA310673808

Gene: SLC52A3

Linked Data

• dbSNP Id: rs755342313
• gnomAD v2: 20-741552-GC-G
• gnomAD v3: 20-760908-GC-G
• gnomAD v4: 20-760908-GC-G
• MyVariant Identifiers: chr20:g.741553del (hg19) ; chr20:g.760909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760909del , CM000682.2:g.760909del	GRCh38
NC_000020.10:g.741553del , CM000682.1:g.741553del	GRCh37
NC_000020.9:g.689553del	NCBI36
NG_027687.1:g.12676del
NG_027687.2:g.20077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*741del	ENSP00000371370.3:n.*741del
ENST00000473664.2:c.*10del	ENSP00000502741.1:n.*10del
ENST00000488495.3:c.*117del	ENSP00000494009.1:n.*117del
ENST00000645534.1:c.*117del MANE Select	ENSP00000494193.1:n.*117del
ENST00000217254.11:c.*117del	ENSP00000217254.7:n.*117del
ENST00000381944.4:c.*741del	ENSP00000371370.3:n.*741del
ENST00000632431.1:c.*117del	ENSP00000488723.1:n.*117del
NM_033409.3:c.*117del	NP_212134.3:n.*117del
XM_005260655.3:c.*117del	XP_005260712.1:n.*117del
XM_011529148.1:c.*117del	XP_011527450.1:n.*117del
XM_005260655.4:c.*117del	XP_005260712.1:n.*117del
XM_024451821.1:c.*117del	XP_024307589.1:n.*117del
NM_033409.4:c.*117del MANE Select	NP_212134.3:n.*117del
NM_001370085.1:c.*117del	NP_001357014.1:n.*117del
NM_001370086.1:c.*117del	NP_001357015.1:n.*117del