Canonical Allele Identifier: CA634092993

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1205214856
• gnomAD v2: 20-741404-G-A
• gnomAD v3: 20-760760-G-A
• gnomAD v4: 20-760760-G-A
• MyVariant Identifiers: chr20:g.741404G>A (hg19) ; chr20:g.760760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760760G>A , CM000682.2:g.760760G>A	GRCh38
NC_000020.10:g.741404G>A , CM000682.1:g.741404G>A	GRCh37
NC_000020.9:g.689404G>A	NCBI36
NG_027687.1:g.12825C>T
NG_027687.2:g.20226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*890C>T	ENSP00000371370.3:n.*890C>T
ENST00000473664.2:c.*159C>T	ENSP00000502741.1:n.*159C>T
ENST00000488495.3:c.*266C>T	ENSP00000494009.1:n.*266C>T
ENST00000645534.1:c.*266C>T MANE Select	ENSP00000494193.1:n.*266C>T
ENST00000217254.11:c.*266C>T	ENSP00000217254.7:n.*266C>T
ENST00000381944.4:c.*890C>T	ENSP00000371370.3:n.*890C>T
ENST00000632431.1:c.*266C>T	ENSP00000488723.1:n.*266C>T
NM_033409.3:c.*266C>T	NP_212134.3:n.*266C>T
XM_005260655.3:c.*266C>T	XP_005260712.1:n.*266C>T
XM_011529148.1:c.*266C>T	XP_011527450.1:n.*266C>T
XM_005260655.4:c.*266C>T	XP_005260712.1:n.*266C>T
XM_024451821.1:c.*266C>T	XP_024307589.1:n.*266C>T
NM_033409.4:c.*266C>T MANE Select	NP_212134.3:n.*266C>T
NM_001370085.1:c.*266C>T	NP_001357014.1:n.*266C>T
NM_001370086.1:c.*266C>T	NP_001357015.1:n.*266C>T