Canonical Allele Identifier: CA9724760

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 476611
• ClinVar RCV Id: RCV000537910 ; RCV000825091 ; RCV001544835
• dbSNP Id: rs6054614
• ExAC: 20:745898 T / C
• gnomAD v2: 20-745898-T-C
• gnomAD v3: 20-765254-T-C
• gnomAD v4: 20-765254-T-C
• MyVariant Identifiers: chr20:g.745898T>C (hg19) ; chr20:g.765254T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765254T>C , CM000682.2:g.765254T>C	GRCh38
NC_000020.10:g.745898T>C , CM000682.1:g.745898T>C	GRCh37
NC_000020.9:g.693898T>C	NCBI36
NG_027687.1:g.8331A>G
NG_027687.2:g.15732A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.521A>G	ENSP00000371370.3:p.Asp174Gly
ENST00000473664.2:c.521A>G	ENSP00000502741.1:p.Asp174Gly
ENST00000488495.3:c.521A>G	ENSP00000494009.1:p.Asp174Gly
ENST00000645534.1:c.521A>G MANE Select	ENSP00000494193.1:p.Asp174Gly
ENST00000675066.1:c.521A>G	ENSP00000501902.1:p.Asp174Gly
ENST00000676154.1:c.521A>G	ENSP00000501807.1:p.Asp174Gly
ENST00000217254.11:c.521A>G	ENSP00000217254.7:p.Asp174Gly
ENST00000381944.4:c.521A>G	ENSP00000371370.3:p.Asp174Gly
ENST00000473664.1:n.572A>G
ENST00000632431.1:c.521A>G	ENSP00000488723.1:p.Asp174Gly
NM_033409.3:c.521A>G	NP_212134.3:p.Asp174Gly
XM_005260655.3:c.521A>G	XP_005260712.1:p.Asp174Gly
XM_011529148.1:c.521A>G	XP_011527450.1:p.Asp174Gly
XM_005260655.4:c.521A>G	XP_005260712.1:p.Asp174Gly
XM_024451821.1:c.521A>G	XP_024307589.1:p.Asp174Gly
NM_033409.4:c.521A>G MANE Select	NP_212134.3:p.Asp174Gly
NM_001370085.1:c.521A>G	NP_001357014.1:p.Asp174Gly
NM_001370086.1:c.521A>G	NP_001357015.1:p.Asp174Gly