Canonical Allele Identifier: CA2058962453

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780579T= , CM000674.2:g.101780579T=	GRCh38
NC_000012.11:g.102174357T= , CM000674.1:g.102174357T=	GRCh37
NC_000012.10:g.100698488T=	NCBI36
NG_021243.1:g.55289A=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.614A= MANE Select	NP_077288.2:p.Gln205=
ENST00000299314.12:c.614A= MANE Select	ENSP00000299314.7:p.Gln205=
NM_024312.4:c.614A=	NP_077288.2:p.Gln205=
ENST00000299314.11:c.614A=	ENSP00000299314.7:p.Gln205=
ENST00000549940.5:c.614A=	ENSP00000449150.1:p.Gln205=
ENST00000552681.1:c.248A=	ENSP00000449217.1:p.Gln83=
XM_006719593.2:c.614A=	XP_006719656.1:p.Gln205=
XM_006719593.3:c.614A=	XP_006719656.1:p.Gln205=
XM_011538731.1:c.533A=	XP_011537033.1:p.Gln178=
XM_011538731.2:c.533A=	XP_011537033.1:p.Gln178=
XM_017019961.1:c.398A=	XP_016875450.1:p.Gln133=
XM_017019962.2:c.-737A=	XP_016875451.1:n.-737A=