Canonical Allele Identifier: CA481326310

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179944A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786166A>G , CM000674.2:g.101786166A>G	GRCh38
NC_000012.11:g.102179944A>G , CM000674.1:g.102179944A>G	GRCh37
NC_000012.10:g.100704075A>G	NCBI36
NG_021243.1:g.49702T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.417T>C MANE Select	ENSP00000299314.7:p.Leu139=
ENST00000299314.11:c.417T>C	ENSP00000299314.7:p.Leu139=
ENST00000549940.5:c.417T>C	ENSP00000449150.1:p.Leu139=
ENST00000550352.1:n.211T>C
ENST00000552681.1:c.51T>C	ENSP00000449217.1:p.Leu17=
NM_024312.4:c.417T>C	NP_077288.2:p.Leu139=
XM_006719593.2:c.417T>C	XP_006719656.1:p.Leu139=
XM_011538731.1:c.336T>C	XP_011537033.1:p.Leu112=
XM_006719593.3:c.417T>C	XP_006719656.1:p.Leu139=
XM_011538731.2:c.336T>C	XP_011537033.1:p.Leu112=
XM_017019961.1:c.201T>C	XP_016875450.1:p.Leu67=
XM_017019962.2:c.-934T>C	XP_016875451.1:n.-934T>C
NM_024312.5:c.417T>C MANE Select	NP_077288.2:p.Leu139=