Canonical Allele Identifier: CA634326107

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1329373765
• gnomAD v2: 20-746536-G-A
• gnomAD v3: 20-765892-G-A
• gnomAD v4: 20-765892-G-A
• MyVariant Identifiers: chr20:g.746536G>A (hg19) ; chr20:g.765892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765892G>A , CM000682.2:g.765892G>A	GRCh38
NC_000020.10:g.746536G>A , CM000682.1:g.746536G>A	GRCh37
NC_000020.9:g.694536G>A	NCBI36
NG_027687.1:g.7693C>T
NG_027687.2:g.15094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.-51-67C>T	ENSP00000371370.3:n.-51-67C>T
ENST00000488495.3:c.-118C>T	ENSP00000494009.1:n.-118C>T
ENST00000645534.1:c.-51-67C>T MANE Select	ENSP00000494193.1:n.-51-67C>T
ENST00000674666.1:c.-118C>T	ENSP00000502783.1:n.-118C>T
ENST00000675066.1:c.-51-67C>T	ENSP00000501902.1:n.-51-67C>T
ENST00000676154.1:c.-51-67C>T	ENSP00000501807.1:n.-51-67C>T
ENST00000217254.11:c.-51-67C>T	ENSP00000217254.7:n.-51-67C>T
ENST00000381944.4:c.-51-67C>T	ENSP00000371370.3:n.-51-67C>T
ENST00000632431.1:c.-51-67C>T	ENSP00000488723.1:n.-51-67C>T
NM_033409.3:c.-51-67C>T	NP_212134.3:n.-51-67C>T
XM_005260655.3:c.-51-67C>T	XP_005260712.1:n.-51-67C>T
XM_011529148.1:c.-118C>T	XP_011527450.1:n.-118C>T
XM_005260655.4:c.-51-67C>T	XP_005260712.1:n.-51-67C>T
XM_024451821.1:c.-51-67C>T	XP_024307589.1:n.-51-67C>T
NM_033409.4:c.-51-67C>T MANE Select	NP_212134.3:n.-51-67C>T
NM_001370085.1:c.-51-67C>T	NP_001357014.1:n.-51-67C>T
NM_001370086.1:c.-118C>T	NP_001357015.1:n.-118C>T