Canonical Allele Identifier: CA310673866

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1043914795
• gnomAD v4: 20-760986-G-C
• MyVariant Identifiers: chr20:g.741630G>C (hg19) ; chr20:g.760986G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760986G>C , CM000682.2:g.760986G>C	GRCh38
NC_000020.10:g.741630G>C , CM000682.1:g.741630G>C	GRCh37
NC_000020.9:g.689630G>C	NCBI36
NG_027687.1:g.12599C>G
NG_027687.2:g.20000C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*664C>G	ENSP00000371370.3:n.*664C>G
ENST00000473664.2:c.944C>G	ENSP00000502741.1:p.Thr315Ser
ENST00000488495.3:c.*40C>G	ENSP00000494009.1:n.*40C>G
ENST00000645534.1:c.*40C>G MANE Select	ENSP00000494193.1:n.*40C>G
ENST00000217254.11:c.*40C>G	ENSP00000217254.7:n.*40C>G
ENST00000381944.4:c.*664C>G	ENSP00000371370.3:n.*664C>G
ENST00000632431.1:c.*40C>G	ENSP00000488723.1:n.*40C>G
NM_033409.3:c.*40C>G	NP_212134.3:n.*40C>G
XM_005260655.3:c.*40C>G	XP_005260712.1:n.*40C>G
XM_011529148.1:c.*40C>G	XP_011527450.1:n.*40C>G
XM_005260655.4:c.*40C>G	XP_005260712.1:n.*40C>G
XM_024451821.1:c.*40C>G	XP_024307589.1:n.*40C>G
NM_033409.4:c.*40C>G MANE Select	NP_212134.3:n.*40C>G
NM_001370085.1:c.*40C>G	NP_001357014.1:n.*40C>G
NM_001370086.1:c.*40C>G	NP_001357015.1:n.*40C>G