Canonical Allele Identifier: CA2630962075

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362910-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362910A>G , CM000678.2:g.1362910A>G	GRCh38
NC_000016.9:g.1412911A>G , CM000678.1:g.1412911A>G	GRCh37
NC_000016.8:g.1352912A>G	NCBI36
NG_016985.1:g.16012A>G
NG_033129.1:g.56795T>C

Transcript Alleles

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