Canonical Allele Identifier: CA634326109

Gene: SLC52A3

Linked Data

• dbSNP Id: rs397963800
• gnomAD v2: 20-746581-C-CTT
• gnomAD v3: 20-765937-C-CTT
• gnomAD v4: 20-765937-C-CTT
• MyVariant Identifiers: chr20:g.746582_746583insTT (hg19) ; chr20:g.746581_746582insTT (hg19) ; chr20:g.765938_765939insTT (hg38) ; chr20:g.765937_765938insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765948_765949dup , CM000682.2:g.765948_765949dup	GRCh38
NC_000020.10:g.746592_746593dup , CM000682.1:g.746592_746593dup	GRCh37
NC_000020.9:g.694592_694593dup	NCBI36
NG_027687.1:g.7646_7647dup
NG_027687.2:g.15047_15048dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.-51-114_-51-113dup	ENSP00000371370.3:n.-51-114_-51-113dup
ENST00000488495.3:c.-165_-164dup	ENSP00000494009.1:n.-165_-164dup
ENST00000645534.1:c.-51-114_-51-113dup MANE Select	ENSP00000494193.1:n.-51-114_-51-113dup
ENST00000674666.1:c.-165_-164dup	ENSP00000502783.1:n.-165_-164dup
ENST00000675066.1:c.-51-114_-51-113dup	ENSP00000501902.1:n.-51-114_-51-113dup
ENST00000676154.1:c.-51-114_-51-113dup	ENSP00000501807.1:n.-51-114_-51-113dup
ENST00000217254.11:c.-51-114_-51-113dup	ENSP00000217254.7:n.-51-114_-51-113dup
ENST00000381944.4:c.-51-114_-51-113dup	ENSP00000371370.3:n.-51-114_-51-113dup
ENST00000632431.1:c.-51-114_-51-113dup	ENSP00000488723.1:n.-51-114_-51-113dup
NM_033409.3:c.-51-114_-51-113dup	NP_212134.3:n.-51-114_-51-113dup
XM_005260655.3:c.-51-114_-51-113dup	XP_005260712.1:n.-51-114_-51-113dup
XM_011529148.1:c.-165_-164dup	XP_011527450.1:n.-165_-164dup
XM_005260655.4:c.-51-114_-51-113dup	XP_005260712.1:n.-51-114_-51-113dup
XM_024451821.1:c.-51-114_-51-113dup	XP_024307589.1:n.-51-114_-51-113dup
NM_033409.4:c.-51-114_-51-113dup MANE Select	NP_212134.3:n.-51-114_-51-113dup
NM_001370085.1:c.-51-114_-51-113dup	NP_001357014.1:n.-51-114_-51-113dup
NM_001370086.1:c.-165_-164dup	NP_001357015.1:n.-165_-164dup