Canonical Allele Identifier: CA2630961012

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362566-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362566G>T , CM000678.2:g.1362566G>T	GRCh38
NC_000016.9:g.1412567G>T , CM000678.1:g.1412567G>T	GRCh37
NC_000016.8:g.1352568G>T	NCBI36
NG_016985.1:g.15668G>T
NG_033129.1:g.57139C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.708+32G>T
ENST00000529110.2:c.693+32G>T	ENSP00000435349.2:n.693+32G>T
ENST00000529957.6:n.667+32G>T
ENST00000683366.1:c.*341+32G>T	ENSP00000507283.1:n.*341+32G>T
ENST00000683887.1:c.657+32G>T	ENSP00000506886.1:n.657+32G>T
ENST00000684100.1:n.603+32G>T
ENST00000684126.1:n.699G>T
ENST00000684688.1:n.1234+32G>T
ENST00000204679.9:c.609+32G>T MANE Select	ENSP00000204679.4:n.609+32G>T
ENST00000204679.8:c.609+32G>T	ENSP00000204679.4:n.609+32G>T
ENST00000527076.1:n.1788G>T
ENST00000527168.5:n.776+32G>T
ENST00000529957.5:n.708+32G>T
NM_032520.4:c.609+32G>T	NP_115909.1:n.609+32G>T
XM_017023782.1:c.657+32G>T	XP_016879271.1:n.657+32G>T
XM_017023783.1:c.249+32G>T	XP_016879272.1:n.249+32G>T
NM_032520.5:c.609+32G>T MANE Select	NP_115909.1:n.609+32G>T