Canonical Allele Identifier: CA481326194

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1620270
• ClinVar RCV Id: RCV002089340
• dbSNP Id: rs2137144351
• MyVariant Identifiers: chr12:g.102179818T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786040T>A , CM000674.2:g.101786040T>A	GRCh38
NC_000012.11:g.102179818T>A , CM000674.1:g.102179818T>A	GRCh37
NC_000012.10:g.100703949T>A	NCBI36
NG_021243.1:g.49828A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.543A>T MANE Select	ENSP00000299314.7:p.Ser181=
ENST00000299314.11:c.543A>T	ENSP00000299314.7:p.Ser181=
ENST00000549940.5:c.543A>T	ENSP00000449150.1:p.Ser181=
ENST00000550352.1:n.337A>T
ENST00000552681.1:c.177A>T	ENSP00000449217.1:p.Ser59=
NM_024312.4:c.543A>T	NP_077288.2:p.Ser181=
XM_006719593.2:c.543A>T	XP_006719656.1:p.Ser181=
XM_011538731.1:c.462A>T	XP_011537033.1:p.Ser154=
XM_006719593.3:c.543A>T	XP_006719656.1:p.Ser181=
XM_011538731.2:c.462A>T	XP_011537033.1:p.Ser154=
XM_017019961.1:c.327A>T	XP_016875450.1:p.Ser109=
XM_017019962.2:c.-808A>T	XP_016875451.1:n.-808A>T
NM_024312.5:c.543A>T MANE Select	NP_077288.2:p.Ser181=