Canonical Allele Identifier: CA2201615422

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362837C= , CM000678.2:g.1362837C=	GRCh38
NC_000016.9:g.1412838C= , CM000678.1:g.1412838C=	GRCh37
NC_000016.8:g.1352839C=	NCBI36
NG_016985.1:g.15939C=
NG_033129.1:g.56868G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.853C=
ENST00000529110.2:c.838C=	ENSP00000435349.2:p.Leu280=
ENST00000529957.6:n.812C=
ENST00000683366.1:c.*486C=	ENSP00000507283.1:n.*486C=
ENST00000683887.1:c.802C=	ENSP00000506886.1:p.Leu268=
ENST00000684100.1:n.748C=
ENST00000684126.1:n.888C=
ENST00000684688.1:n.1379C=
ENST00000204679.9:c.754C= MANE Select	ENSP00000204679.4:p.Leu252=
ENST00000204679.8:c.754C=	ENSP00000204679.4:p.Leu252=
ENST00000527076.1:n.1977C=
ENST00000527168.5:n.921C=
ENST00000529957.5:n.853C=
NM_032520.4:c.754C=	NP_115909.1:p.Leu252=
XM_017023782.1:c.802C=	XP_016879271.1:p.Leu268=
XM_017023783.1:c.394C=	XP_016879272.1:p.Leu132=
NM_032520.5:c.754C= MANE Select	NP_115909.1:p.Leu252=