Canonical Allele Identifier: CA2058966539

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101789951G= , CM000674.2:g.101789951G=	GRCh38
NC_000012.11:g.102183729G= , CM000674.1:g.102183729G=	GRCh37
NC_000012.10:g.100707860G=	NCBI36
NG_021243.1:g.45917C=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.310C= MANE Select	NP_077288.2:p.Gln104=
ENST00000299314.12:c.310C= MANE Select	ENSP00000299314.7:p.Gln104=
NM_024312.4:c.310C=	NP_077288.2:p.Gln104=
ENST00000299314.11:c.310C=	ENSP00000299314.7:p.Gln104=
ENST00000549940.5:c.310C=	ENSP00000449150.1:p.Gln104=
ENST00000550352.1:n.104C=
XM_006719593.2:c.310C=	XP_006719656.1:p.Gln104=
XM_006719593.3:c.310C=	XP_006719656.1:p.Gln104=
XM_011538731.1:c.229C=	XP_011537033.1:p.Gln77=
XM_011538731.2:c.229C=	XP_011537033.1:p.Gln77=
XM_017019961.1:c.94C=	XP_016875450.1:p.Gln32=
XM_017019962.2:c.-1041C=	XP_016875451.1:n.-1041C=