Canonical Allele Identifier: CA2058985288

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830822A= , CM000674.2:g.101830822A=	GRCh38
NC_000012.11:g.102224600A= , CM000674.1:g.102224600A=	GRCh37
NC_000012.10:g.100748731A=	NCBI36
NG_021243.1:g.5046T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-147T= MANE Select	ENSP00000299314.7:n.-147T=
ENST00000299314.11:c.-147T=	ENSP00000299314.7:n.-147T=
ENST00000392919.4:c.-147T=	ENSP00000376651.4:n.-147T=
NM_024312.4:c.-147T=	NP_077288.2:n.-147T=
XM_006719593.2:c.-147T=	XP_006719656.1:n.-147T=
XM_017019961.1:c.-296T=	XP_016875450.1:n.-296T=
NM_024312.5:c.-147T= MANE Select	NP_077288.2:n.-147T=