Canonical Allele Identifier: CA481320788

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102164358C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770580C>T , CM000674.2:g.101770580C>T	GRCh38
NC_000012.11:g.102164358C>T , CM000674.1:g.102164358C>T	GRCh37
NC_000012.10:g.100688489C>T	NCBI36
NG_021243.1:g.65288G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.939G>A MANE Select	ENSP00000299314.7:p.Lys313=
ENST00000299314.11:c.939G>A	ENSP00000299314.7:p.Lys313=
ENST00000549940.5:c.939G>A	ENSP00000449150.1:p.Lys313=
NM_024312.4:c.939G>A	NP_077288.2:p.Lys313=
XM_006719593.2:c.939G>A	XP_006719656.1:p.Lys313=
XM_011538731.1:c.858G>A	XP_011537033.1:p.Lys286=
XM_006719593.3:c.939G>A	XP_006719656.1:p.Lys313=
XM_011538731.2:c.858G>A	XP_011537033.1:p.Lys286=
XM_017019961.1:c.723G>A	XP_016875450.1:p.Lys241=
XM_017019962.2:c.-289G>A	XP_016875451.1:n.-289G>A
NM_024312.5:c.939G>A MANE Select	NP_077288.2:p.Lys313=