Canonical Allele Identifier: CA343352

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39036
• ClinVar RCV Id: RCV000032301 ; RCV001380786
• dbSNP Id: rs281864981
• gnomAD v4: 12-101766184-G-A
• MyVariant Identifiers: chr12:g.102159962G>A (hg19) ; chr12:g.101766184G>A (hg38)
• PubMed: PMID:19634183 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766184G>A , CM000674.2:g.101766184G>A	GRCh38
NC_000012.11:g.102159962G>A , CM000674.1:g.102159962G>A	GRCh37
NC_000012.10:g.100684093G>A	NCBI36
NG_021243.1:g.69684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1519C>T MANE Select	ENSP00000299314.7:p.Gln507Ter
ENST00000299314.11:c.1519C>T	ENSP00000299314.7:p.Gln507Ter
ENST00000552009.1:n.178C>T
NM_024312.4:c.1519C>T	NP_077288.2:p.Gln507Ter
XM_006719593.2:c.1519C>T	XP_006719656.1:p.Gln507Ter
XM_011538731.1:c.1438C>T	XP_011537033.1:p.Gln480Ter
XM_006719593.3:c.1519C>T	XP_006719656.1:p.Gln507Ter
XM_011538731.2:c.1438C>T	XP_011537033.1:p.Gln480Ter
XM_017019961.1:c.1303C>T	XP_016875450.1:p.Gln435Ter
XM_017019962.2:c.292C>T	XP_016875451.1:p.Gln98Ter
NM_024312.5:c.1519C>T MANE Select	NP_077288.2:p.Gln507Ter