Canonical Allele Identifier: CA2201615270

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362625G= , CM000678.2:g.1362625G=	GRCh38
NC_000016.9:g.1412626G= , CM000678.1:g.1412626G=	GRCh37
NC_000016.8:g.1352627G=	NCBI36
NG_016985.1:g.15727G=
NG_033129.1:g.57080C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.723G=
ENST00000529110.2:c.708G=	ENSP00000435349.2:p.Leu236=
ENST00000529957.6:n.682G=
ENST00000683366.1:c.*356G=	ENSP00000507283.1:n.*356G=
ENST00000683887.1:c.672G=	ENSP00000506886.1:p.Leu224=
ENST00000684100.1:n.618G=
ENST00000684126.1:n.758G=
ENST00000684688.1:n.1249G=
ENST00000204679.9:c.624G= MANE Select	ENSP00000204679.4:p.Leu208=
ENST00000204679.8:c.624G=	ENSP00000204679.4:p.Leu208=
ENST00000527076.1:n.1847G=
ENST00000527168.5:n.791G=
ENST00000529957.5:n.723G=
NM_032520.4:c.624G=	NP_115909.1:p.Leu208=
XM_017023782.1:c.672G=	XP_016879271.1:p.Leu224=
XM_017023783.1:c.264G=	XP_016879272.1:p.Leu88=
NM_032520.5:c.624G= MANE Select	NP_115909.1:p.Leu208=