Canonical Allele Identifier: CA2058964857

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786171T= , CM000674.2:g.101786171T=	GRCh38
NC_000012.11:g.102179949T= , CM000674.1:g.102179949T=	GRCh37
NC_000012.10:g.100704080T=	NCBI36
NG_021243.1:g.49697A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.412A= MANE Select	ENSP00000299314.7:p.Met138=
ENST00000299314.11:c.412A=	ENSP00000299314.7:p.Met138=
ENST00000549940.5:c.412A=	ENSP00000449150.1:p.Met138=
ENST00000550352.1:n.206A=
ENST00000552681.1:c.46A=	ENSP00000449217.1:p.Met16=
NM_024312.4:c.412A=	NP_077288.2:p.Met138=
XM_006719593.2:c.412A=	XP_006719656.1:p.Met138=
XM_011538731.1:c.331A=	XP_011537033.1:p.Met111=
XM_006719593.3:c.412A=	XP_006719656.1:p.Met138=
XM_011538731.2:c.331A=	XP_011537033.1:p.Met111=
XM_017019961.1:c.196A=	XP_016875450.1:p.Met66=
XM_017019962.2:c.-939A=	XP_016875451.1:n.-939A=
NM_024312.5:c.412A= MANE Select	NP_077288.2:p.Met138=