Canonical Allele Identifier: CA343358

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39040
• ClinVar RCV Id: RCV000032305 ; RCV000670808 ; RCV001778671
• dbSNP Id: rs281864982
• gnomAD v4: 12-101765158-G-A
• COSMIC: COSM430173
• MyVariant Identifiers: chr12:g.102158936G>A (hg19) ; chr12:g.101765158G>A (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765158G>A , CM000674.2:g.101765158G>A	GRCh38
NC_000012.11:g.102158936G>A , CM000674.1:g.102158936G>A	GRCh37
NC_000012.10:g.100683067G>A	NCBI36
NG_021243.1:g.70710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1759C>T MANE Select	ENSP00000299314.7:p.Arg587Ter
ENST00000299314.11:c.1759C>T	ENSP00000299314.7:p.Arg587Ter
NM_024312.4:c.1759C>T	NP_077288.2:p.Arg587Ter
XM_006719593.2:c.1759C>T	XP_006719656.1:p.Arg587Ter
XM_011538731.1:c.1678C>T	XP_011537033.1:p.Arg560Ter
XM_006719593.3:c.1759C>T	XP_006719656.1:p.Arg587Ter
XM_011538731.2:c.1678C>T	XP_011537033.1:p.Arg560Ter
XM_017019961.1:c.1543C>T	XP_016875450.1:p.Arg515Ter
XM_017019962.2:c.532C>T	XP_016875451.1:p.Arg178Ter
NM_024312.5:c.1759C>T MANE Select	NP_077288.2:p.Arg587Ter