Canonical Allele Identifier: CA2058958041

Gene: GNPTAB

Genomic Alleles

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

Transcript Alleles

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