Canonical Allele Identifier: CA343343

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39029
• ClinVar RCV Id: RCV000032294 ; RCV001037653
• dbSNP Id: rs281864975
• MyVariant Identifiers: chr12:g.102161898C>T (hg19) ; chr12:g.101768120C>T (hg38)
• PubMed: PMID:19634183 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768120C>T , CM000674.2:g.101768120C>T	GRCh38
NC_000012.11:g.102161898C>T , CM000674.1:g.102161898C>T	GRCh37
NC_000012.10:g.100686029C>T	NCBI36
NG_021243.1:g.67748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1325G>A MANE Select	ENSP00000299314.7:p.Cys442Tyr
ENST00000299314.11:c.1325G>A	ENSP00000299314.7:p.Cys442Tyr
ENST00000549940.5:c.1325G>A	ENSP00000449150.1:p.Cys442Tyr
NM_024312.4:c.1325G>A	NP_077288.2:p.Cys442Tyr
XM_006719593.2:c.1325G>A	XP_006719656.1:p.Cys442Tyr
XM_011538731.1:c.1244G>A	XP_011537033.1:p.Cys415Tyr
XM_006719593.3:c.1325G>A	XP_006719656.1:p.Cys442Tyr
XM_011538731.2:c.1244G>A	XP_011537033.1:p.Cys415Tyr
XM_017019961.1:c.1109G>A	XP_016875450.1:p.Cys370Tyr
XM_017019962.2:c.98G>A	XP_016875451.1:p.Cys33Tyr
NM_024312.5:c.1325G>A MANE Select	NP_077288.2:p.Cys442Tyr