Canonical Allele Identifier: CA2575866726

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361717-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361717G>T , CM000678.2:g.1361717G>T	GRCh38
NC_000016.9:g.1411718G>T , CM000678.1:g.1411718G>T	GRCh37
NC_000016.8:g.1351719G>T	NCBI36
NG_016985.1:g.14819G>T
NG_033129.1:g.57988C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.278-26G>T
ENST00000529110.2:c.263-26G>T	ENSP00000435349.2:n.263-26G>T
ENST00000529957.6:n.237-26G>T
ENST00000683366.1:c.179-155G>T	ENSP00000507283.1:n.179-155G>T
ENST00000683887.1:c.201G>T	ENSP00000506886.1:p.Leu67=
ENST00000684100.1:n.73G>T
ENST00000684126.1:n.237-26G>T
ENST00000684688.1:n.778G>T
ENST00000204679.9:c.179-26G>T MANE Select	ENSP00000204679.4:n.179-26G>T
ENST00000204679.8:c.179-26G>T	ENSP00000204679.4:n.179-26G>T
ENST00000526820.5:c.*81-26G>T	ENSP00000434413.1:n.*81-26G>T
ENST00000527076.1:n.1095G>T
ENST00000527168.5:n.270-155G>T
ENST00000529110.1:c.246-26G>T
ENST00000529957.5:n.278-26G>T
NM_032520.4:c.179-26G>T	NP_115909.1:n.179-26G>T
XM_017023782.1:c.201G>T	XP_016879271.1:p.Leu67=
XM_017023783.1:c.-182-26G>T	XP_016879272.1:n.-182-26G>T
NM_032520.5:c.179-26G>T MANE Select	NP_115909.1:n.179-26G>T