Canonical Allele Identifier: CA2573151747

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1580550
• ClinVar RCV Id: RCV002085865
• dbSNP Id: rs761349421

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362914A>T , CM000678.2:g.1362914A>T	GRCh38
NC_000016.9:g.1412915A>T , CM000678.1:g.1412915A>T	GRCh37
NC_000016.8:g.1352916A>T	NCBI36
NG_016985.1:g.16016A>T
NG_033129.1:g.56791T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+8A>T
ENST00000529110.2:c.907+8A>T	ENSP00000435349.2:n.907+8A>T
ENST00000529957.6:n.881+8A>T
ENST00000683366.1:c.*555+8A>T	ENSP00000507283.1:n.*555+8A>T
ENST00000683887.1:c.871+8A>T	ENSP00000506886.1:n.871+8A>T
ENST00000684100.1:n.817+8A>T
ENST00000684126.1:n.957+8A>T
ENST00000684688.1:n.1448+8A>T
ENST00000204679.9:c.823+8A>T MANE Select	ENSP00000204679.4:n.823+8A>T
ENST00000204679.8:c.823+8A>T	ENSP00000204679.4:n.823+8A>T
ENST00000527076.1:n.2046+8A>T
ENST00000527168.5:n.990+8A>T
NM_032520.4:c.823+8A>T	NP_115909.1:n.823+8A>T
XM_017023782.1:c.871+8A>T	XP_016879271.1:n.871+8A>T
XM_017023783.1:c.463+8A>T	XP_016879272.1:n.463+8A>T
NM_032520.5:c.823+8A>T MANE Select	NP_115909.1:n.823+8A>T