Canonical Allele Identifier: CA2630960581

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362416-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362416G>T , CM000678.2:g.1362416G>T	GRCh38
NC_000016.9:g.1412417G>T , CM000678.1:g.1412417G>T	GRCh37
NC_000016.8:g.1352418G>T	NCBI36
NG_016985.1:g.15518G>T
NG_033129.1:g.57289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.626-36G>T
ENST00000529110.2:c.611-36G>T	ENSP00000435349.2:n.611-36G>T
ENST00000529957.6:n.585-36G>T
ENST00000683366.1:c.*259-36G>T	ENSP00000507283.1:n.*259-36G>T
ENST00000683887.1:c.575-36G>T	ENSP00000506886.1:n.575-36G>T
ENST00000684100.1:n.521-36G>T
ENST00000684126.1:n.585-36G>T
ENST00000684688.1:n.1152-36G>T
ENST00000204679.9:c.527-36G>T MANE Select	ENSP00000204679.4:n.527-36G>T
ENST00000204679.8:c.527-36G>T	ENSP00000204679.4:n.527-36G>T
ENST00000527076.1:n.1638G>T
ENST00000527168.5:n.658G>T
ENST00000529957.5:n.626-36G>T
NM_032520.4:c.527-36G>T	NP_115909.1:n.527-36G>T
XM_017023782.1:c.575-36G>T	XP_016879271.1:n.575-36G>T
XM_017023783.1:c.167-36G>T	XP_016879272.1:n.167-36G>T
NM_032520.5:c.527-36G>T MANE Select	NP_115909.1:n.527-36G>T