Canonical Allele Identifier: CA2058957967

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770402G= , CM000674.2:g.101770402G=	GRCh38
NC_000012.11:g.102164180G= , CM000674.1:g.102164180G=	GRCh37
NC_000012.10:g.100688311G=	NCBI36
NG_021243.1:g.65466C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1113+4C= MANE Select	ENSP00000299314.7:n.1113+4C=
ENST00000299314.11:c.1113+4C=	ENSP00000299314.7:n.1113+4C=
ENST00000549940.5:c.1113+4C=	ENSP00000449150.1:n.1113+4C=
NM_024312.4:c.1113+4C=	NP_077288.2:n.1113+4C=
XM_006719593.2:c.1113+4C=	XP_006719656.1:n.1113+4C=
XM_011538731.1:c.1032+4C=	XP_011537033.1:n.1032+4C=
XM_006719593.3:c.1113+4C=	XP_006719656.1:n.1113+4C=
XM_011538731.2:c.1032+4C=	XP_011537033.1:n.1032+4C=
XM_017019961.1:c.897+4C=	XP_016875450.1:n.897+4C=
XM_017019962.2:c.-115+4C=	XP_016875451.1:n.-115+4C=
NM_024312.5:c.1113+4C= MANE Select	NP_077288.2:n.1113+4C=