Canonical Allele Identifier: CA9724784

Gene: SLC52A3

Linked Data

• dbSNP Id: rs776113448
• ExAC: 20:745985 TCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG / T
• MyVariant Identifiers: chr20:g.745986_746026del (hg19) ; chr20:g.765342_765382del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765343_765383del , CM000682.2:g.765343_765383del	GRCh38
NC_000020.10:g.745987_746027del , CM000682.1:g.745987_746027del	GRCh37
NC_000020.9:g.693987_694027del	NCBI36
NG_027687.1:g.8203_8243del
NG_027687.2:g.15604_15644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.393_433del	ENSP00000371370.3:p.Ser131ArgfsTer27
ENST00000473664.2:c.393_433del	ENSP00000502741.1:p.Ser131ArgfsTer27
ENST00000488495.3:c.393_433del	ENSP00000494009.1:p.Ser131ArgfsTer27
ENST00000645534.1:c.393_433del MANE Select	ENSP00000494193.1:p.Ser131ArgfsTer27
ENST00000675066.1:c.393_433del	ENSP00000501902.1:p.Ser131ArgfsTer27
ENST00000676154.1:c.393_433del	ENSP00000501807.1:p.Ser131ArgfsTer27
ENST00000217254.11:c.393_433del	ENSP00000217254.7:p.Ser131ArgfsTer27
ENST00000381944.4:c.393_433del	ENSP00000371370.3:p.Ser131ArgfsTer27
ENST00000473664.1:n.444_484del
ENST00000632431.1:c.393_433del	ENSP00000488723.1:p.Ser131ArgfsTer27
NM_033409.3:c.393_433del	NP_212134.3:p.Ser131ArgfsTer27
XM_005260655.3:c.393_433del	XP_005260712.1:p.Ser131ArgfsTer27
XM_011529148.1:c.393_433del	XP_011527450.1:p.Ser131ArgfsTer27
XM_005260655.4:c.393_433del	XP_005260712.1:p.Ser131ArgfsTer27
XM_024451821.1:c.393_433del	XP_024307589.1:p.Ser131ArgfsTer27
NM_033409.4:c.393_433del MANE Select	NP_212134.3:p.Ser131ArgfsTer27
NM_001370085.1:c.393_433del	NP_001357014.1:p.Ser131ArgfsTer27
NM_001370086.1:c.393_433del	NP_001357015.1:p.Ser131ArgfsTer27