Canonical Allele Identifier: CA2630959150

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361990-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361990A>G , CM000678.2:g.1361990A>G	GRCh38
NC_000016.9:g.1411991A>G , CM000678.1:g.1411991A>G	GRCh37
NC_000016.8:g.1351992A>G	NCBI36
NG_016985.1:g.15092A>G
NG_033129.1:g.57715T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+35A>G
ENST00000529110.2:c.401+35A>G	ENSP00000435349.2:n.401+35A>G
ENST00000529957.6:n.375+35A>G
ENST00000683366.1:c.*49+35A>G	ENSP00000507283.1:n.*49+35A>G
ENST00000683887.1:c.365+35A>G	ENSP00000506886.1:n.365+35A>G
ENST00000684100.1:n.311+35A>G
ENST00000684126.1:n.375+35A>G
ENST00000684688.1:n.942+35A>G
ENST00000204679.9:c.317+35A>G MANE Select	ENSP00000204679.4:n.317+35A>G
ENST00000204679.8:c.317+35A>G	ENSP00000204679.4:n.317+35A>G
ENST00000526820.5:c.*219+35A>G	ENSP00000434413.1:n.*219+35A>G
ENST00000527076.1:n.1333+35A>G
ENST00000527168.5:n.353+35A>G
ENST00000529110.1:c.384+35A>G
ENST00000529957.5:n.416+35A>G
NM_032520.4:c.317+35A>G	NP_115909.1:n.317+35A>G
XM_017023782.1:c.365+35A>G	XP_016879271.1:n.365+35A>G
XM_017023783.1:c.-44+35A>G	XP_016879272.1:n.-44+35A>G
NM_032520.5:c.317+35A>G MANE Select	NP_115909.1:n.317+35A>G