Canonical Allele Identifier: CA343076

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 38424
• ClinVar RCV Id: RCV000031980
• dbSNP Id: rs281865012
• gnomAD v4: 12-101760029-C-T
• MyVariant Identifiers: chr12:g.102153807C>T (hg19) ; chr12:g.101760029C>T (hg38)
• PubMed: PMID:16630736 ; PMID:20301730

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760029C>T , CM000674.2:g.101760029C>T	GRCh38
NC_000012.11:g.102153807C>T , CM000674.1:g.102153807C>T	GRCh37
NC_000012.10:g.100677938C>T	NCBI36
NG_021243.1:g.75839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3249+1G>A MANE Select	ENSP00000299314.7:n.3249+1G>A
ENST00000299314.11:c.3249+1G>A	ENSP00000299314.7:n.3249+1G>A
ENST00000549194.1:n.115+1G>A
ENST00000550718.1:c.61+1G>A
NM_024312.4:c.3249+1G>A	NP_077288.2:n.3249+1G>A
XM_006719593.2:c.3249+1G>A	XP_006719656.1:n.3249+1G>A
XM_011538731.1:c.3168+1G>A	XP_011537033.1:n.3168+1G>A
XM_006719593.3:c.3249+1G>A	XP_006719656.1:n.3249+1G>A
XM_011538731.2:c.3168+1G>A	XP_011537033.1:n.3168+1G>A
XM_017019961.1:c.3033+1G>A	XP_016875450.1:n.3033+1G>A
XM_017019962.2:c.2022+1G>A	XP_016875451.1:n.2022+1G>A
NM_024312.5:c.3249+1G>A MANE Select	NP_077288.2:n.3249+1G>A