Canonical Allele Identifier: CA2058985156

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830632G= , CM000674.2:g.101830632G=	GRCh38
NC_000012.11:g.102224410G= , CM000674.1:g.102224410G=	GRCh37
NC_000012.10:g.100748541G=	NCBI36
NG_021243.1:g.5236C=

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.44C= MANE Select	NP_077288.2:p.Ser15=
ENST00000299314.12:c.44C= MANE Select	ENSP00000299314.7:p.Ser15=
NM_024312.4:c.44C=	NP_077288.2:p.Ser15=
ENST00000299314.11:c.44C=	ENSP00000299314.7:p.Ser15=
ENST00000392919.4:c.44C=	ENSP00000376651.4:p.Ser15=
ENST00000549165.1:c.44C=	ENSP00000450413.1:p.Ser15=
ENST00000549940.5:c.44C=	ENSP00000449150.1:p.Ser15=
ENST00000647144.1:n.32C=
XM_006719593.2:c.44C=	XP_006719656.1:p.Ser15=
XM_006719593.3:c.44C=	XP_006719656.1:p.Ser15=
XM_017019961.1:c.-106C=	XP_016875450.1:n.-106C=
XM_017019962.2:c.-1307C=	XP_016875451.1:n.-1307C=