Canonical Allele Identifier: CA343412

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 39085
• ClinVar RCV Id: RCV000032352 ; RCV001852651
• dbSNP Id: rs281864962
• MyVariant Identifiers: chr12:g.102174065C>T (hg19) ; chr12:g.101780287C>T (hg38)
• PubMed: PMID:19617216 ; PMID:20301728

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780287C>T , CM000674.2:g.101780287C>T	GRCh38
NC_000012.11:g.102174065C>T , CM000674.1:g.102174065C>T	GRCh37
NC_000012.10:g.100698196C>T	NCBI36
NG_021243.1:g.55581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.637-1G>A MANE Select	ENSP00000299314.7:n.637-1G>A
ENST00000299314.11:c.637-1G>A	ENSP00000299314.7:n.637-1G>A
ENST00000549940.5:c.637-1G>A	ENSP00000449150.1:n.637-1G>A
ENST00000552681.1:c.271-1G>A	ENSP00000449217.1:n.271-1G>A
NM_024312.4:c.637-1G>A	NP_077288.2:n.637-1G>A
XM_006719593.2:c.637-1G>A	XP_006719656.1:n.637-1G>A
XM_011538731.1:c.556-1G>A	XP_011537033.1:n.556-1G>A
XM_006719593.3:c.637-1G>A	XP_006719656.1:n.637-1G>A
XM_011538731.2:c.556-1G>A	XP_011537033.1:n.556-1G>A
XM_017019961.1:c.421-1G>A	XP_016875450.1:n.421-1G>A
XM_017019962.2:c.-714-1G>A	XP_016875451.1:n.-714-1G>A
NM_024312.5:c.637-1G>A MANE Select	NP_077288.2:n.637-1G>A