Canonical Allele Identifier: CA2058954325

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760122T= , CM000674.2:g.101760122T=	GRCh38
NC_000012.11:g.102153900T= , CM000674.1:g.102153900T=	GRCh37
NC_000012.10:g.100678031T=	NCBI36
NG_021243.1:g.75746A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3157A= MANE Select	ENSP00000299314.7:p.Met1053=
ENST00000299314.11:c.3157A=	ENSP00000299314.7:p.Met1053=
ENST00000549194.1:n.23A=
NM_024312.4:c.3157A=	NP_077288.2:p.Met1053=
XM_006719593.2:c.3157A=	XP_006719656.1:p.Met1053=
XM_011538731.1:c.3076A=	XP_011537033.1:p.Met1026=
XM_006719593.3:c.3157A=	XP_006719656.1:p.Met1053=
XM_011538731.2:c.3076A=	XP_011537033.1:p.Met1026=
XM_017019961.1:c.2941A=	XP_016875450.1:p.Met981=
XM_017019962.2:c.1930A=	XP_016875451.1:p.Met644=
NM_024312.5:c.3157A= MANE Select	NP_077288.2:p.Met1053=