Canonical Allele Identifier: CA2201614943

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362244T= , CM000678.2:g.1362244T=	GRCh38
NC_000016.9:g.1412245T= , CM000678.1:g.1412245T=	GRCh37
NC_000016.8:g.1352246T=	NCBI36
NG_016985.1:g.15346T=
NG_033129.1:g.57461A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.549T=
ENST00000529110.2:c.534T=	ENSP00000435349.2:p.His178=
ENST00000529957.6:n.508T=
ENST00000683366.1:c.*182T=	ENSP00000507283.1:n.*182T=
ENST00000683887.1:c.498T=	ENSP00000506886.1:p.His166=
ENST00000684100.1:n.444T=
ENST00000684126.1:n.508T=
ENST00000684688.1:n.1075T=
ENST00000204679.9:c.450T= MANE Select	ENSP00000204679.4:p.His150=
ENST00000204679.8:c.450T=	ENSP00000204679.4:p.His150=
ENST00000527076.1:n.1466T=
ENST00000527168.5:n.486T=
ENST00000529110.1:c.517T=
ENST00000529957.5:n.549T=
NM_032520.4:c.450T=	NP_115909.1:p.His150=
XM_017023782.1:c.498T=	XP_016879271.1:p.His166=
XM_017023783.1:c.90T=	XP_016879272.1:p.His30=
NM_032520.5:c.450T= MANE Select	NP_115909.1:p.His150=