Canonical Allele Identifier: CA481347124

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102224397C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830619C>A , CM000674.2:g.101830619C>A	GRCh38
NC_000012.11:g.102224397C>A , CM000674.1:g.102224397C>A	GRCh37
NC_000012.10:g.100748528C>A	NCBI36
NG_021243.1:g.5249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.57G>T MANE Select	ENSP00000299314.7:p.Gly19=
ENST00000647144.1:n.45G>T
ENST00000299314.11:c.57G>T	ENSP00000299314.7:p.Gly19=
ENST00000392919.4:c.57G>T	ENSP00000376651.4:p.Gly19=
ENST00000549165.1:c.57G>T	ENSP00000450413.1:p.Gly19=
ENST00000549940.5:c.57G>T	ENSP00000449150.1:p.Gly19=
NM_024312.4:c.57G>T	NP_077288.2:p.Gly19=
XM_006719593.2:c.57G>T	XP_006719656.1:p.Gly19=
XM_006719593.3:c.57G>T	XP_006719656.1:p.Gly19=
XM_017019961.1:c.-100+7G>T	XP_016875450.1:n.-100+7G>T
XM_017019962.2:c.-1294G>T	XP_016875451.1:n.-1294G>T
NM_024312.5:c.57G>T MANE Select	NP_077288.2:p.Gly19=