Canonical Allele Identifier: CA481326247

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179863G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786085G>A , CM000674.2:g.101786085G>A	GRCh38
NC_000012.11:g.102179863G>A , CM000674.1:g.102179863G>A	GRCh37
NC_000012.10:g.100703994G>A	NCBI36
NG_021243.1:g.49783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.498C>T MANE Select	ENSP00000299314.7:p.Asp166=
ENST00000299314.11:c.498C>T	ENSP00000299314.7:p.Asp166=
ENST00000549940.5:c.498C>T	ENSP00000449150.1:p.Asp166=
ENST00000550352.1:n.292C>T
ENST00000552681.1:c.132C>T	ENSP00000449217.1:p.Asp44=
NM_024312.4:c.498C>T	NP_077288.2:p.Asp166=
XM_006719593.2:c.498C>T	XP_006719656.1:p.Asp166=
XM_011538731.1:c.417C>T	XP_011537033.1:p.Asp139=
XM_006719593.3:c.498C>T	XP_006719656.1:p.Asp166=
XM_011538731.2:c.417C>T	XP_011537033.1:p.Asp139=
XM_017019961.1:c.282C>T	XP_016875450.1:p.Asp94=
XM_017019962.2:c.-853C>T	XP_016875451.1:n.-853C>T
NM_024312.5:c.498C>T MANE Select	NP_077288.2:p.Asp166=