Canonical Allele Identifier: CA2058954321

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760120C= , CM000674.2:g.101760120C=	GRCh38
NC_000012.11:g.102153898C= , CM000674.1:g.102153898C=	GRCh37
NC_000012.10:g.100678029C=	NCBI36
NG_021243.1:g.75748G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3159G= MANE Select	ENSP00000299314.7:p.Met1053=
ENST00000299314.11:c.3159G=	ENSP00000299314.7:p.Met1053=
ENST00000549194.1:n.25G=
NM_024312.4:c.3159G=	NP_077288.2:p.Met1053=
XM_006719593.2:c.3159G=	XP_006719656.1:p.Met1053=
XM_011538731.1:c.3078G=	XP_011537033.1:p.Met1026=
XM_006719593.3:c.3159G=	XP_006719656.1:p.Met1053=
XM_011538731.2:c.3078G=	XP_011537033.1:p.Met1026=
XM_017019961.1:c.2943G=	XP_016875450.1:p.Met981=
XM_017019962.2:c.1932G=	XP_016875451.1:p.Met644=
NM_024312.5:c.3159G= MANE Select	NP_077288.2:p.Met1053=