Canonical Allele Identifier: CA343344

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39030
• ClinVar RCV Id: RCV000032295 ; RCV003441724
• dbSNP Id: rs281864976
• gnomAD v4: 12-101768113-A-AC
• MyVariant Identifiers: chr12:g.102161892dupC (hg19) ; chr12:g.102161891_102161892insC (hg19) ; chr12:g.101768114dupC (hg38) ; chr12:g.101768113_101768114insC (hg38)
• PubMed: PMID:19634183 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768115dup , CM000674.2:g.101768115dup	GRCh38
NC_000012.11:g.102161893dup , CM000674.1:g.102161893dup	GRCh37
NC_000012.10:g.100686024dup	NCBI36
NG_021243.1:g.67754dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1331dup MANE Select	ENSP00000299314.7:p.Ser445PhefsTer4
ENST00000299314.11:c.1331dup	ENSP00000299314.7:p.Ser445PhefsTer4
ENST00000549940.5:c.1331dup	ENSP00000449150.1:p.Ser445PhefsTer4
NM_024312.4:c.1331dup	NP_077288.2:p.Ser445PhefsTer4
XM_006719593.2:c.1331dup	XP_006719656.1:p.Ser445PhefsTer4
XM_011538731.1:c.1250dup	XP_011537033.1:p.Ser418PhefsTer4
XM_006719593.3:c.1331dup	XP_006719656.1:p.Ser445PhefsTer4
XM_011538731.2:c.1250dup	XP_011537033.1:p.Ser418PhefsTer4
XM_017019961.1:c.1115dup	XP_016875450.1:p.Ser373PhefsTer4
XM_017019962.2:c.104dup	XP_016875451.1:p.Ser36PhefsTer4
NM_024312.5:c.1331dup MANE Select	NP_077288.2:p.Ser445PhefsTer4