Canonical Allele Identifier: CA2630960565

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362412-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362412C>G , CM000678.2:g.1362412C>G	GRCh38
NC_000016.9:g.1412413C>G , CM000678.1:g.1412413C>G	GRCh37
NC_000016.8:g.1352414C>G	NCBI36
NG_016985.1:g.15514C>G
NG_033129.1:g.57293G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-40C>G
ENST00000529110.2:c.611-40C>G	ENSP00000435349.2:n.611-40C>G
ENST00000529957.6:n.585-40C>G
ENST00000683366.1:c.*259-40C>G	ENSP00000507283.1:n.*259-40C>G
ENST00000683887.1:c.575-40C>G	ENSP00000506886.1:n.575-40C>G
ENST00000684100.1:n.521-40C>G
ENST00000684126.1:n.585-40C>G
ENST00000684688.1:n.1152-40C>G
ENST00000204679.9:c.527-40C>G MANE Select	ENSP00000204679.4:n.527-40C>G
ENST00000204679.8:c.527-40C>G	ENSP00000204679.4:n.527-40C>G
ENST00000527076.1:n.1634C>G
ENST00000527168.5:n.654C>G
ENST00000529957.5:n.626-40C>G
NM_032520.4:c.527-40C>G	NP_115909.1:n.527-40C>G
XM_017023782.1:c.575-40C>G	XP_016879271.1:n.575-40C>G
XM_017023783.1:c.167-40C>G	XP_016879272.1:n.167-40C>G
NM_032520.5:c.527-40C>G MANE Select	NP_115909.1:n.527-40C>G