Canonical Allele Identifier: CA481326256

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179872A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786094A>T , CM000674.2:g.101786094A>T	GRCh38
NC_000012.11:g.102179872A>T , CM000674.1:g.102179872A>T	GRCh37
NC_000012.10:g.100704003A>T	NCBI36
NG_021243.1:g.49774T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.489T>A MANE Select	ENSP00000299314.7:p.Ser163=
ENST00000299314.11:c.489T>A	ENSP00000299314.7:p.Ser163=
ENST00000549940.5:c.489T>A	ENSP00000449150.1:p.Ser163=
ENST00000550352.1:n.283T>A
ENST00000552681.1:c.123T>A	ENSP00000449217.1:p.Ser41=
NM_024312.4:c.489T>A	NP_077288.2:p.Ser163=
XM_006719593.2:c.489T>A	XP_006719656.1:p.Ser163=
XM_011538731.1:c.408T>A	XP_011537033.1:p.Ser136=
XM_006719593.3:c.489T>A	XP_006719656.1:p.Ser163=
XM_011538731.2:c.408T>A	XP_011537033.1:p.Ser136=
XM_017019961.1:c.273T>A	XP_016875450.1:p.Ser91=
XM_017019962.2:c.-862T>A	XP_016875451.1:n.-862T>A
NM_024312.5:c.489T>A MANE Select	NP_077288.2:p.Ser163=