Canonical Allele Identifier: CA2201615003

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362268C= , CM000678.2:g.1362268C=	GRCh38
NC_000016.9:g.1412269C= , CM000678.1:g.1412269C=	GRCh37
NC_000016.8:g.1352270C=	NCBI36
NG_016985.1:g.15370C=
NG_033129.1:g.57437G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.573C=
ENST00000529110.2:c.558C=	ENSP00000435349.2:p.Val186=
ENST00000529957.6:n.532C=
ENST00000683366.1:c.*206C=	ENSP00000507283.1:n.*206C=
ENST00000683887.1:c.522C=	ENSP00000506886.1:p.Val174=
ENST00000684100.1:n.468C=
ENST00000684126.1:n.532C=
ENST00000684688.1:n.1099C=
ENST00000204679.9:c.474C= MANE Select	ENSP00000204679.4:p.Val158=
ENST00000204679.8:c.474C=	ENSP00000204679.4:p.Val158=
ENST00000527076.1:n.1490C=
ENST00000527168.5:n.510C=
ENST00000529110.1:c.541C=
ENST00000529957.5:n.573C=
NM_032520.4:c.474C=	NP_115909.1:p.Val158=
XM_017023782.1:c.522C=	XP_016879271.1:p.Val174=
XM_017023783.1:c.114C=	XP_016879272.1:p.Val38=
NM_032520.5:c.474C= MANE Select	NP_115909.1:p.Val158=