Canonical Allele Identifier: CA2630958233

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361726-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361726T>G , CM000678.2:g.1361726T>G	GRCh38
NC_000016.9:g.1411727T>G , CM000678.1:g.1411727T>G	GRCh37
NC_000016.8:g.1351728T>G	NCBI36
NG_016985.1:g.14828T>G
NG_033129.1:g.57979A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-17T>G
ENST00000529110.2:c.263-17T>G	ENSP00000435349.2:n.263-17T>G
ENST00000529957.6:n.237-17T>G
ENST00000683366.1:c.179-146T>G	ENSP00000507283.1:n.179-146T>G
ENST00000683887.1:c.210T>G	ENSP00000506886.1:p.Ser70Arg
ENST00000684100.1:n.82T>G
ENST00000684126.1:n.237-17T>G
ENST00000684688.1:n.787T>G
ENST00000204679.9:c.179-17T>G MANE Select	ENSP00000204679.4:n.179-17T>G
ENST00000204679.8:c.179-17T>G	ENSP00000204679.4:n.179-17T>G
ENST00000526820.5:c.*81-17T>G	ENSP00000434413.1:n.*81-17T>G
ENST00000527076.1:n.1104T>G
ENST00000527168.5:n.270-146T>G
ENST00000529110.1:c.246-17T>G
ENST00000529957.5:n.278-17T>G
NM_032520.4:c.179-17T>G	NP_115909.1:n.179-17T>G
XM_017023782.1:c.210T>G	XP_016879271.1:p.Ser70Arg
XM_017023783.1:c.-182-17T>G	XP_016879272.1:n.-182-17T>G
NM_032520.5:c.179-17T>G MANE Select	NP_115909.1:n.179-17T>G