Canonical Allele Identifier: CA481327892

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102190493G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796715G>T , CM000674.2:g.101796715G>T	GRCh38
NC_000012.11:g.102190493G>T , CM000674.1:g.102190493G>T	GRCh37
NC_000012.10:g.100714624G>T	NCBI36
NG_021243.1:g.39153C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.165C>A MANE Select	ENSP00000299314.7:p.Ser55=
ENST00000647144.1:n.285C>A
ENST00000299314.11:c.165C>A	ENSP00000299314.7:p.Ser55=
ENST00000392919.4:c.165C>A	ENSP00000376651.4:p.Ser55=
ENST00000549165.1:c.165C>A	ENSP00000450413.1:p.Ser55=
ENST00000549940.5:c.165C>A	ENSP00000449150.1:p.Ser55=
NM_024312.4:c.165C>A	NP_077288.2:p.Ser55=
XM_006719593.2:c.165C>A	XP_006719656.1:p.Ser55=
XM_011538731.1:c.84C>A	XP_011537033.1:p.Ser28=
XM_006719593.3:c.165C>A	XP_006719656.1:p.Ser55=
XM_011538731.2:c.84C>A	XP_011537033.1:p.Ser28=
XM_017019961.1:c.-52C>A	XP_016875450.1:n.-52C>A
XM_017019962.2:c.-1186C>A	XP_016875451.1:n.-1186C>A
NM_024312.5:c.165C>A MANE Select	NP_077288.2:p.Ser55=