Canonical Allele Identifier: CA2201614997

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362265C= , CM000678.2:g.1362265C=	GRCh38
NC_000016.9:g.1412266C= , CM000678.1:g.1412266C=	GRCh37
NC_000016.8:g.1352267C=	NCBI36
NG_016985.1:g.15367C=
NG_033129.1:g.57440G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.570C=
ENST00000529110.2:c.555C=	ENSP00000435349.2:p.Cys185=
ENST00000529957.6:n.529C=
ENST00000683366.1:c.*203C=	ENSP00000507283.1:n.*203C=
ENST00000683887.1:c.519C=	ENSP00000506886.1:p.Cys173=
ENST00000684100.1:n.465C=
ENST00000684126.1:n.529C=
ENST00000684688.1:n.1096C=
ENST00000204679.9:c.471C= MANE Select	ENSP00000204679.4:p.Cys157=
ENST00000204679.8:c.471C=	ENSP00000204679.4:p.Cys157=
ENST00000527076.1:n.1487C=
ENST00000527168.5:n.507C=
ENST00000529110.1:c.538C=
ENST00000529957.5:n.570C=
NM_032520.4:c.471C=	NP_115909.1:p.Cys157=
XM_017023782.1:c.519C=	XP_016879271.1:p.Cys173=
XM_017023783.1:c.111C=	XP_016879272.1:p.Cys37=
NM_032520.5:c.471C= MANE Select	NP_115909.1:p.Cys157=