Canonical Allele Identifier: CA386304931

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179865C>T (hg19) ; chr12:g.101786087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786087C>T , CM000674.2:g.101786087C>T	GRCh38
NC_000012.11:g.102179865C>T , CM000674.1:g.102179865C>T	GRCh37
NC_000012.10:g.100703996C>T	NCBI36
NG_021243.1:g.49781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.496G>A MANE Select	ENSP00000299314.7:p.Asp166Asn
ENST00000299314.11:c.496G>A	ENSP00000299314.7:p.Asp166Asn
ENST00000549940.5:c.496G>A	ENSP00000449150.1:p.Asp166Asn
ENST00000550352.1:n.290G>A
ENST00000552681.1:c.130G>A	ENSP00000449217.1:p.Asp44Asn
NM_024312.4:c.496G>A	NP_077288.2:p.Asp166Asn
XM_006719593.2:c.496G>A	XP_006719656.1:p.Asp166Asn
XM_011538731.1:c.415G>A	XP_011537033.1:p.Asp139Asn
XM_006719593.3:c.496G>A	XP_006719656.1:p.Asp166Asn
XM_011538731.2:c.415G>A	XP_011537033.1:p.Asp139Asn
XM_017019961.1:c.280G>A	XP_016875450.1:p.Asp94Asn
XM_017019962.2:c.-855G>A	XP_016875451.1:n.-855G>A
NM_024312.5:c.496G>A MANE Select	NP_077288.2:p.Asp166Asn