Canonical Allele Identifier: CA2843597188

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361656A>G , CM000678.2:g.1361656A>G	GRCh38
NC_000016.9:g.1411657A>G , CM000678.1:g.1411657A>G	GRCh37
NC_000016.8:g.1351658A>G	NCBI36
NG_016985.1:g.14758A>G
NG_033129.1:g.58049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-87A>G
ENST00000529110.2:c.263-87A>G	ENSP00000435349.2:n.263-87A>G
ENST00000529957.6:n.237-87A>G
ENST00000683366.1:c.179-216A>G	ENSP00000507283.1:n.179-216A>G
ENST00000683887.1:c.179-39A>G	ENSP00000506886.1:n.179-39A>G
ENST00000684100.1:n.12A>G
ENST00000684126.1:n.237-87A>G
ENST00000684688.1:n.717A>G
ENST00000204679.9:c.179-87A>G MANE Select	ENSP00000204679.4:n.179-87A>G
ENST00000204679.8:c.179-87A>G	ENSP00000204679.4:n.179-87A>G
ENST00000526820.5:c.*81-87A>G	ENSP00000434413.1:n.*81-87A>G
ENST00000527076.1:n.1034A>G
ENST00000527168.5:n.270-216A>G
ENST00000529110.1:c.246-87A>G
ENST00000529957.5:n.278-87A>G
NM_032520.4:c.179-87A>G	NP_115909.1:n.179-87A>G
XM_017023782.1:c.179-39A>G	XP_016879271.1:n.179-39A>G
XM_017023783.1:c.-182-87A>G	XP_016879272.1:n.-182-87A>G
NM_032520.5:c.179-87A>G MANE Select	NP_115909.1:n.179-87A>G