Canonical Allele Identifier: CA2740096820

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2994506
• ClinVar RCV Id: RCV003856145

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362024C>G , CM000678.2:g.1362024C>G	GRCh38
NC_000016.9:g.1412025C>G , CM000678.1:g.1412025C>G	GRCh37
NC_000016.8:g.1352026C>G	NCBI36
NG_016985.1:g.15126C>G
NG_033129.1:g.57681G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.417-14C>G
ENST00000529110.2:c.402-14C>G	ENSP00000435349.2:n.402-14C>G
ENST00000529957.6:n.376-14C>G
ENST00000683366.1:c.*50-14C>G	ENSP00000507283.1:n.*50-14C>G
ENST00000683887.1:c.366-14C>G	ENSP00000506886.1:n.366-14C>G
ENST00000684100.1:n.312-14C>G
ENST00000684126.1:n.376-14C>G
ENST00000684688.1:n.943-14C>G
ENST00000204679.9:c.318-14C>G MANE Select	ENSP00000204679.4:n.318-14C>G
ENST00000204679.8:c.318-14C>G	ENSP00000204679.4:n.318-14C>G
ENST00000526820.5:c.*220-14C>G	ENSP00000434413.1:n.*220-14C>G
ENST00000527076.1:n.1334-14C>G
ENST00000527168.5:n.354-14C>G
ENST00000529110.1:c.385-14C>G
ENST00000529957.5:n.417-14C>G
NM_032520.4:c.318-14C>G	NP_115909.1:n.318-14C>G
XM_017023782.1:c.366-14C>G	XP_016879271.1:n.366-14C>G
XM_017023783.1:c.-43-14C>G	XP_016879272.1:n.-43-14C>G
NM_032520.5:c.318-14C>G MANE Select	NP_115909.1:n.318-14C>G