Canonical Allele Identifier: CA2630962121

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2918643
• ClinVar RCV Id: RCV003739099
• gnomAD v4: 16-1362925-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362925G>C , CM000678.2:g.1362925G>C	GRCh38
NC_000016.9:g.1412926G>C , CM000678.1:g.1412926G>C	GRCh37
NC_000016.8:g.1352927G>C	NCBI36
NG_016985.1:g.16027G>C
NG_033129.1:g.56780C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+19G>C
ENST00000529110.2:c.907+19G>C	ENSP00000435349.2:n.907+19G>C
ENST00000529957.6:n.881+19G>C
ENST00000683366.1:c.*555+19G>C	ENSP00000507283.1:n.*555+19G>C
ENST00000683887.1:c.871+19G>C	ENSP00000506886.1:n.871+19G>C
ENST00000684100.1:n.817+19G>C
ENST00000684126.1:n.957+19G>C
ENST00000684688.1:n.1448+19G>C
ENST00000204679.9:c.823+19G>C MANE Select	ENSP00000204679.4:n.823+19G>C
ENST00000204679.8:c.823+19G>C	ENSP00000204679.4:n.823+19G>C
ENST00000527076.1:n.2046+19G>C
ENST00000527168.5:n.990+19G>C
NM_032520.4:c.823+19G>C	NP_115909.1:n.823+19G>C
XM_017023782.1:c.871+19G>C	XP_016879271.1:n.871+19G>C
XM_017023783.1:c.463+19G>C	XP_016879272.1:n.463+19G>C
NM_032520.5:c.823+19G>C MANE Select	NP_115909.1:n.823+19G>C