Canonical Allele Identifier: CA407961855

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 663677
• ClinVar RCV Id: RCV000821600
• dbSNP Id: rs761224042
• gnomAD v4: 20-761102-A-G
• MyVariant Identifiers: chr20:g.741746A>G (hg19) ; chr20:g.761102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761102A>G , CM000682.2:g.761102A>G	GRCh38
NC_000020.10:g.741746A>G , CM000682.1:g.741746A>G	GRCh37
NC_000020.9:g.689746A>G	NCBI36
NG_027687.1:g.12483T>C
NG_027687.2:g.19884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*548T>C	ENSP00000371370.3:n.*548T>C
ENST00000473664.2:c.828T>C	ENSP00000502741.1:p.Ala276=
ENST00000488495.3:c.1334T>C	ENSP00000494009.1:p.Leu445Pro
ENST00000645534.1:c.1334T>C MANE Select	ENSP00000494193.1:p.Leu445Pro
ENST00000217254.11:c.1334T>C	ENSP00000217254.7:p.Leu445Pro
ENST00000381944.4:c.*548T>C	ENSP00000371370.3:n.*548T>C
ENST00000473664.1:n.879T>C
ENST00000632431.1:c.1334T>C	ENSP00000488723.1:p.Leu445Pro
NM_033409.3:c.1334T>C	NP_212134.3:p.Leu445Pro
XM_005260655.3:c.1334T>C	XP_005260712.1:p.Leu445Pro
XM_011529148.1:c.1334T>C	XP_011527450.1:p.Leu445Pro
XM_005260655.4:c.1334T>C	XP_005260712.1:p.Leu445Pro
XM_024451821.1:c.1334T>C	XP_024307589.1:p.Leu445Pro
NM_033409.4:c.1334T>C MANE Select	NP_212134.3:p.Leu445Pro
NM_001370085.1:c.1334T>C	NP_001357014.1:p.Leu445Pro
NM_001370086.1:c.1334T>C	NP_001357015.1:p.Leu445Pro