Canonical Allele Identifier: CA2630958236

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361728-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361728T>G , CM000678.2:g.1361728T>G	GRCh38
NC_000016.9:g.1411729T>G , CM000678.1:g.1411729T>G	GRCh37
NC_000016.8:g.1351730T>G	NCBI36
NG_016985.1:g.14830T>G
NG_033129.1:g.57977A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-15T>G
ENST00000529110.2:c.263-15T>G	ENSP00000435349.2:n.263-15T>G
ENST00000529957.6:n.237-15T>G
ENST00000683366.1:c.179-144T>G	ENSP00000507283.1:n.179-144T>G
ENST00000683887.1:c.212T>G	ENSP00000506886.1:p.Val71Gly
ENST00000684100.1:n.84T>G
ENST00000684126.1:n.237-15T>G
ENST00000684688.1:n.789T>G
ENST00000204679.9:c.179-15T>G MANE Select	ENSP00000204679.4:n.179-15T>G
ENST00000204679.8:c.179-15T>G	ENSP00000204679.4:n.179-15T>G
ENST00000526820.5:c.*81-15T>G	ENSP00000434413.1:n.*81-15T>G
ENST00000527076.1:n.1106T>G
ENST00000527168.5:n.270-144T>G
ENST00000529110.1:c.246-15T>G
ENST00000529957.5:n.278-15T>G
NM_032520.4:c.179-15T>G	NP_115909.1:n.179-15T>G
XM_017023782.1:c.212T>G	XP_016879271.1:p.Val71Gly
XM_017023783.1:c.-182-15T>G	XP_016879272.1:n.-182-15T>G
NM_032520.5:c.179-15T>G MANE Select	NP_115909.1:n.179-15T>G