Canonical Allele Identifier: CA481326196

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1985904
• ClinVar RCV Id: RCV002785783
• MyVariant Identifiers: chr12:g.102179818T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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