Canonical Allele Identifier: CA340017

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2772
• ClinVar RCV Id: RCV000002901 ; RCV001328325 ; RCV001781170 ; RCV001381208
• dbSNP Id: rs34940801
• ExAC: 12:102151349 C / T
• gnomAD v2: 12-102151349-C-T
• gnomAD v3: 12-101757571-C-T
• gnomAD v4: 12-101757571-C-T
• MyVariant Identifiers: chr12:g.102151349C>T (hg19) ; chr12:g.101757571C>T (hg38)
• PubMed: PMID:16200072 ; PMID:16465621 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757571C>T , CM000674.2:g.101757571C>T	GRCh38
NC_000012.11:g.102151349C>T , CM000674.1:g.102151349C>T	GRCh37
NC_000012.10:g.100675480C>T	NCBI36
NG_021243.1:g.78297G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335+1G>A MANE Select	ENSP00000299314.7:n.3335+1G>A
ENST00000299314.11:c.3335+1G>A	ENSP00000299314.7:n.3335+1G>A
ENST00000549194.1:n.201+1G>A
ENST00000549738.5:c.86+1G>A	ENSP00000450161.1:n.86+1G>A
ENST00000550718.1:c.147+1G>A
NM_024312.4:c.3335+1G>A	NP_077288.2:n.3335+1G>A
XM_006719593.2:c.3335+1G>A	XP_006719656.1:n.3335+1G>A
XM_011538731.1:c.3254+1G>A	XP_011537033.1:n.3254+1G>A
XM_006719593.3:c.3335+1G>A	XP_006719656.1:n.3335+1G>A
XM_011538731.2:c.3254+1G>A	XP_011537033.1:n.3254+1G>A
XM_017019961.1:c.3119+1G>A	XP_016875450.1:n.3119+1G>A
XM_017019962.2:c.2108+1G>A	XP_016875451.1:n.2108+1G>A
NM_024312.5:c.3335+1G>A MANE Select	NP_077288.2:n.3335+1G>A