Canonical Allele Identifier: CA2630961709

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362816-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362816G>C , CM000678.2:g.1362816G>C	GRCh38
NC_000016.9:g.1412817G>C , CM000678.1:g.1412817G>C	GRCh37
NC_000016.8:g.1352818G>C	NCBI36
NG_016985.1:g.15918G>C
NG_033129.1:g.56889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.841-9G>C
ENST00000529110.2:c.826-9G>C	ENSP00000435349.2:n.826-9G>C
ENST00000529957.6:n.800-9G>C
ENST00000683366.1:c.*474-9G>C	ENSP00000507283.1:n.*474-9G>C
ENST00000683887.1:c.790-9G>C	ENSP00000506886.1:n.790-9G>C
ENST00000684100.1:n.736-9G>C
ENST00000684126.1:n.876-9G>C
ENST00000684688.1:n.1367-9G>C
ENST00000204679.9:c.742-9G>C MANE Select	ENSP00000204679.4:n.742-9G>C
ENST00000204679.8:c.742-9G>C	ENSP00000204679.4:n.742-9G>C
ENST00000527076.1:n.1965-9G>C
ENST00000527168.5:n.909-9G>C
ENST00000529957.5:n.841-9G>C
NM_032520.4:c.742-9G>C	NP_115909.1:n.742-9G>C
XM_017023782.1:c.790-9G>C	XP_016879271.1:n.790-9G>C
XM_017023783.1:c.382-9G>C	XP_016879272.1:n.382-9G>C
NM_032520.5:c.742-9G>C MANE Select	NP_115909.1:n.742-9G>C