Canonical Allele Identifier: CA346969

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 210012
• ClinVar RCV Id: RCV000191957 ; RCV000790977 ; RCV001589066 ; RCV002362997 ; RCV003417696
• dbSNP Id: rs199588390
• ExAC: 20:746357 T / C
• gnomAD v2: 20-746357-T-C
• gnomAD v3: 20-765713-T-C
• gnomAD v4: 20-765713-T-C
• MyVariant Identifiers: chr20:g.746357T>C (hg19) ; chr20:g.765713T>C (hg38)
• PubMed: PMID:22718020 ; PMID:26072523

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765713T>C , CM000682.2:g.765713T>C	GRCh38
NC_000020.10:g.746357T>C , CM000682.1:g.746357T>C	GRCh37
NC_000020.9:g.694357T>C	NCBI36
NG_027687.1:g.7872A>G
NG_027687.2:g.15273A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.62A>G	ENSP00000371370.3:p.Asn21Ser
ENST00000473664.2:c.62A>G	ENSP00000502741.1:p.Asn21Ser
ENST00000488495.3:c.62A>G	ENSP00000494009.1:p.Asn21Ser
ENST00000645534.1:c.62A>G MANE Select	ENSP00000494193.1:p.Asn21Ser
ENST00000674666.1:c.62A>G	ENSP00000502783.1:p.Asn21Ser
ENST00000675066.1:c.62A>G	ENSP00000501902.1:p.Asn21Ser
ENST00000676154.1:c.62A>G	ENSP00000501807.1:p.Asn21Ser
ENST00000217254.11:c.62A>G	ENSP00000217254.7:p.Asn21Ser
ENST00000381944.4:c.62A>G	ENSP00000371370.3:p.Asn21Ser
ENST00000473664.1:n.113A>G
ENST00000632431.1:c.62A>G	ENSP00000488723.1:p.Asn21Ser
NM_033409.3:c.62A>G	NP_212134.3:p.Asn21Ser
XM_005260655.3:c.62A>G	XP_005260712.1:p.Asn21Ser
XM_011529148.1:c.62A>G	XP_011527450.1:p.Asn21Ser
XM_005260655.4:c.62A>G	XP_005260712.1:p.Asn21Ser
XM_024451821.1:c.62A>G	XP_024307589.1:p.Asn21Ser
NM_033409.4:c.62A>G MANE Select	NP_212134.3:p.Asn21Ser
NM_001370085.1:c.62A>G	NP_001357014.1:p.Asn21Ser
NM_001370086.1:c.62A>G	NP_001357015.1:p.Asn21Ser