Canonical Allele Identifier: CA2630959173

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362000-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362000C>T , CM000678.2:g.1362000C>T	GRCh38
NC_000016.9:g.1412001C>T , CM000678.1:g.1412001C>T	GRCh37
NC_000016.8:g.1352002C>T	NCBI36
NG_016985.1:g.15102C>T
NG_033129.1:g.57705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.417-38C>T
ENST00000529110.2:c.402-38C>T	ENSP00000435349.2:n.402-38C>T
ENST00000529957.6:n.376-38C>T
ENST00000683366.1:c.*50-38C>T	ENSP00000507283.1:n.*50-38C>T
ENST00000683887.1:c.366-38C>T	ENSP00000506886.1:n.366-38C>T
ENST00000684100.1:n.312-38C>T
ENST00000684126.1:n.376-38C>T
ENST00000684688.1:n.943-38C>T
ENST00000204679.9:c.318-38C>T MANE Select	ENSP00000204679.4:n.318-38C>T
ENST00000204679.8:c.318-38C>T	ENSP00000204679.4:n.318-38C>T
ENST00000526820.5:c.*220-38C>T	ENSP00000434413.1:n.*220-38C>T
ENST00000527076.1:n.1334-38C>T
ENST00000527168.5:n.354-38C>T
ENST00000529110.1:c.385-38C>T
ENST00000529957.5:n.417-38C>T
NM_032520.4:c.318-38C>T	NP_115909.1:n.318-38C>T
XM_017023782.1:c.366-38C>T	XP_016879271.1:n.366-38C>T
XM_017023783.1:c.-43-38C>T	XP_016879272.1:n.-43-38C>T
NM_032520.5:c.318-38C>T MANE Select	NP_115909.1:n.318-38C>T