Canonical Allele Identifier: CA394186454

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361742G>C , CM000678.2:g.1361742G>C	GRCh38
NC_000016.9:g.1411743G>C , CM000678.1:g.1411743G>C	GRCh37
NC_000016.8:g.1351744G>C	NCBI36
NG_016985.1:g.14844G>C
NG_033129.1:g.57963C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.179-1G>C MANE Select	NP_115909.1:n.179-1G>C
ENST00000204679.9:c.179-1G>C MANE Select	ENSP00000204679.4:n.179-1G>C
NM_032520.4:c.179-1G>C	NP_115909.1:n.179-1G>C
ENST00000204679.8:c.179-1G>C	ENSP00000204679.4:n.179-1G>C
ENST00000526820.5:c.*81-1G>C	ENSP00000434413.1:n.*81-1G>C
ENST00000527076.1:n.1120G>C
ENST00000527168.5:n.270-130G>C
ENST00000527168.6:n.278-1G>C
ENST00000529110.1:c.246-1G>C
ENST00000529110.2:c.263-1G>C	ENSP00000435349.2:n.263-1G>C
ENST00000529957.5:n.278-1G>C
ENST00000529957.6:n.237-1G>C
ENST00000683366.1:c.179-130G>C	ENSP00000507283.1:n.179-130G>C
ENST00000683887.1:c.226G>C	ENSP00000506886.1:p.Gly76Arg
ENST00000684100.1:n.98G>C
ENST00000684126.1:n.237-1G>C
ENST00000684688.1:n.803G>C
XM_017023782.1:c.226G>C	XP_016879271.1:p.Gly76Arg
XM_017023783.1:c.-182-1G>C	XP_016879272.1:n.-182-1G>C