Canonical Allele Identifier: CA340009

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2764
• ClinVar RCV Id: RCV000002891 ; RCV000002892 ; RCV000664622 ; RCV000723447 ; RCV001193438 ; RCV003398424
• dbSNP Id: rs137852897
• ExAC: 12:102147187 G / A
• gnomAD v2: 12-102147187-G-A
• gnomAD v3: 12-101753409-G-A
• gnomAD v4: 12-101753409-G-A
• MyVariant Identifiers: chr12:g.102147187G>A (hg19) ; chr12:g.101753409G>A (hg38)
• PubMed: PMID:16116615 ; PMID:16630736 ; PMID:19197337 ; PMID:20301728 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753409G>A , CM000674.2:g.101753409G>A	GRCh38
NC_000012.11:g.102147187G>A , CM000674.1:g.102147187G>A	GRCh37
NC_000012.10:g.100671318G>A	NCBI36
NG_021243.1:g.82459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3565C>T MANE Select	ENSP00000299314.7:p.Arg1189Ter
ENST00000299314.11:c.3565C>T	ENSP00000299314.7:p.Arg1189Ter
ENST00000549738.5:c.463C>T	ENSP00000450161.1:n.463C>T
NM_024312.4:c.3565C>T	NP_077288.2:p.Arg1189Ter
XM_011538731.1:c.3484C>T	XP_011537033.1:p.Arg1162Ter
XM_011538731.2:c.3484C>T	XP_011537033.1:p.Arg1162Ter
XM_017019961.1:c.3349C>T	XP_016875450.1:p.Arg1117Ter
XM_017019962.2:c.2338C>T	XP_016875451.1:p.Arg780Ter
NM_024312.5:c.3565C>T MANE Select	NP_077288.2:p.Arg1189Ter