Canonical Allele Identifier: CA1014677265

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1986436885
• gnomAD v3: 20-760934-CTG-C
• gnomAD v4: 20-760934-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760936_760937del , CM000682.2:g.760936_760937del	GRCh38
NC_000020.10:g.741580_741581del , CM000682.1:g.741580_741581del	GRCh37
NC_000020.9:g.689580_689581del	NCBI36
NG_027687.1:g.12649_12650del
NG_027687.2:g.20050_20051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*714_*715del	ENSP00000371370.3:n.*714_*715del
ENST00000473664.2:c.994_995del	ENSP00000502741.1:p.Gln332GlufsTer4
ENST00000488495.3:c.*90_*91del	ENSP00000494009.1:n.*90_*91del
ENST00000645534.1:c.*90_*91del MANE Select	ENSP00000494193.1:n.*90_*91del
ENST00000217254.11:c.*90_*91del	ENSP00000217254.7:n.*90_*91del
ENST00000381944.4:c.*714_*715del	ENSP00000371370.3:n.*714_*715del
ENST00000632431.1:c.*90_*91del	ENSP00000488723.1:n.*90_*91del
NM_033409.3:c.*90_*91del	NP_212134.3:n.*90_*91del
XM_005260655.3:c.*90_*91del	XP_005260712.1:n.*90_*91del
XM_011529148.1:c.*90_*91del	XP_011527450.1:n.*90_*91del
XM_005260655.4:c.*90_*91del	XP_005260712.1:n.*90_*91del
XM_024451821.1:c.*90_*91del	XP_024307589.1:n.*90_*91del
NM_033409.4:c.*90_*91del MANE Select	NP_212134.3:n.*90_*91del
NM_001370085.1:c.*90_*91del	NP_001357014.1:n.*90_*91del
NM_001370086.1:c.*90_*91del	NP_001357015.1:n.*90_*91del