Canonical Allele Identifier: CA634093320

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1568721990
• gnomAD v2: 20-744662-A-ATAGGTCAAT
• gnomAD v3: 20-764018-A-ATAGGTCAAT
• gnomAD v4: 20-764018-A-ATAGGTCAAT
• MyVariant Identifiers: chr20:g.744662_744663insTAGGTCAAT (hg19) ; chr20:g.764018_764019insTAGGTCAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.764018_764019insTAGGTCAAT , CM000682.2:g.764018_764019insTAGGTCAAT	GRCh38
NC_000020.10:g.744662_744663insTAGGTCAAT , CM000682.1:g.744662_744663insTAGGTCAAT	GRCh37
NC_000020.9:g.692662_692663insTAGGTCAAT	NCBI36
NG_027687.1:g.9566_9567insATTGACCTA
NG_027687.2:g.16967_16968insATTGACCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.568-16_568-15insATTGACCTA	ENSP00000371370.3:n.568-16_568-15insATTGACCTA
ENST00000473664.2:c.567+1189_567+1190insATTGACCTA	ENSP00000502741.1:n.567+1189_567+1190insATTGACCTA
ENST00000488495.3:c.568-16_568-15insATTGACCTA	ENSP00000494009.1:n.568-16_568-15insATTGACCTA
ENST00000645534.1:c.568-16_568-15insATTGACCTA MANE Select	ENSP00000494193.1:n.568-16_568-15insATTGACCTA
ENST00000675066.1:c.568-16_568-15insATTGACCTA	ENSP00000501902.1:n.568-16_568-15insATTGACCTA
ENST00000676154.1:c.568-16_568-15insATTGACCTA	ENSP00000501807.1:n.568-16_568-15insATTGACCTA
ENST00000217254.11:c.568-16_568-15insATTGACCTA	ENSP00000217254.7:n.568-16_568-15insATTGACCTA
ENST00000381944.4:c.568-16_568-15insATTGACCTA	ENSP00000371370.3:n.568-16_568-15insATTGACCTA
ENST00000473664.1:n.618+1189_618+1190insATTGACCTA
ENST00000632431.1:c.568-16_568-15insATTGACCTA	ENSP00000488723.1:n.568-16_568-15insATTGACCTA
NM_033409.3:c.568-16_568-15insATTGACCTA	NP_212134.3:n.568-16_568-15insATTGACCTA
XM_005260655.3:c.568-16_568-15insATTGACCTA	XP_005260712.1:n.568-16_568-15insATTGACCTA
XM_011529148.1:c.568-16_568-15insATTGACCTA	XP_011527450.1:n.568-16_568-15insATTGACCTA
XM_005260655.4:c.568-16_568-15insATTGACCTA	XP_005260712.1:n.568-16_568-15insATTGACCTA
XM_024451821.1:c.568-16_568-15insATTGACCTA	XP_024307589.1:n.568-16_568-15insATTGACCTA
NM_033409.4:c.568-16_568-15insATTGACCTA MANE Select	NP_212134.3:n.568-16_568-15insATTGACCTA
NM_001370085.1:c.568-16_568-15insATTGACCTA	NP_001357014.1:n.568-16_568-15insATTGACCTA
NM_001370086.1:c.568-16_568-15insATTGACCTA	NP_001357015.1:n.568-16_568-15insATTGACCTA