Canonical Allele Identifier: CA3191744494

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101771015T= , CM000674.2:g.101771015T=	GRCh38
NC_000012.11:g.102164793T= , CM000674.1:g.102164793T=	GRCh37
NC_000012.10:g.100688924T=	NCBI36
NG_021243.1:g.64853A=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.914A= MANE Select	NP_077288.2:p.Asp305=
ENST00000299314.12:c.914A= MANE Select	ENSP00000299314.7:p.Asp305=
NM_024312.4:c.914A=	NP_077288.2:p.Asp305=
ENST00000299314.11:c.914A=	ENSP00000299314.7:p.Asp305=
ENST00000549940.5:c.914A=	ENSP00000449150.1:p.Asp305=
XM_006719593.2:c.914A=	XP_006719656.1:p.Asp305=
XM_006719593.3:c.914A=	XP_006719656.1:p.Asp305=
XM_011538731.1:c.833A=	XP_011537033.1:p.Asp278=
XM_011538731.2:c.833A=	XP_011537033.1:p.Asp278=
XM_017019961.1:c.698A=	XP_016875450.1:p.Asp233=
XM_017019962.2:c.-437A=	XP_016875451.1:n.-437A=