Canonical Allele Identifier: CA2201615505

Gene: GNPTG

Linked Data

• dbSNP Id: rs749980153
• gnomAD v4: 16-1362949-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362949C>G , CM000678.2:g.1362949C>G	GRCh38
NC_000016.9:g.1412950C>G , CM000678.1:g.1412950C>G	GRCh37
NC_000016.8:g.1352951C>G	NCBI36
NG_016985.1:g.16051C>G
NG_033129.1:g.56756G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+43C>G
ENST00000529110.2:c.907+43C>G	ENSP00000435349.2:n.907+43C>G
ENST00000529957.6:n.881+43C>G
ENST00000683366.1:c.*555+43C>G	ENSP00000507283.1:n.*555+43C>G
ENST00000683887.1:c.871+43C>G	ENSP00000506886.1:n.871+43C>G
ENST00000684100.1:n.817+43C>G
ENST00000684126.1:n.957+43C>G
ENST00000684688.1:n.1448+43C>G
ENST00000204679.9:c.823+43C>G MANE Select	ENSP00000204679.4:n.823+43C>G
ENST00000204679.8:c.823+43C>G	ENSP00000204679.4:n.823+43C>G
ENST00000527076.1:n.2046+43C>G
ENST00000527168.5:n.990+43C>G
NM_032520.4:c.823+43C>G	NP_115909.1:n.823+43C>G
XM_017023782.1:c.871+43C>G	XP_016879271.1:n.871+43C>G
XM_017023783.1:c.463+43C>G	XP_016879272.1:n.463+43C>G
NM_032520.5:c.823+43C>G MANE Select	NP_115909.1:n.823+43C>G