Canonical Allele Identifier: CA2843597233

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362590C>A , CM000678.2:g.1362590C>A	GRCh38
NC_000016.9:g.1412591C>A , CM000678.1:g.1412591C>A	GRCh37
NC_000016.8:g.1352592C>A	NCBI36
NG_016985.1:g.15692C>A
NG_033129.1:g.57115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.709-21C>A
ENST00000529110.2:c.694-21C>A	ENSP00000435349.2:n.694-21C>A
ENST00000529957.6:n.668-21C>A
ENST00000683366.1:c.*342-21C>A	ENSP00000507283.1:n.*342-21C>A
ENST00000683887.1:c.658-21C>A	ENSP00000506886.1:n.658-21C>A
ENST00000684100.1:n.604-21C>A
ENST00000684126.1:n.723C>A
ENST00000684688.1:n.1235-21C>A
ENST00000204679.9:c.610-21C>A MANE Select	ENSP00000204679.4:n.610-21C>A
ENST00000204679.8:c.610-21C>A	ENSP00000204679.4:n.610-21C>A
ENST00000527076.1:n.1812C>A
ENST00000527168.5:n.777-21C>A
ENST00000529957.5:n.709-21C>A
NM_032520.4:c.610-21C>A	NP_115909.1:n.610-21C>A
XM_017023782.1:c.658-21C>A	XP_016879271.1:n.658-21C>A
XM_017023783.1:c.250-21C>A	XP_016879272.1:n.250-21C>A
NM_032520.5:c.610-21C>A MANE Select	NP_115909.1:n.610-21C>A