Canonical Allele Identifier: CA2630960393

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362359-C-CCGCGCACGCAGCCCTGCTGGAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362361_1362383dup , CM000678.2:g.1362361_1362383dup	GRCh38
NC_000016.9:g.1412362_1412384dup , CM000678.1:g.1412362_1412384dup	GRCh37
NC_000016.8:g.1352363_1352385dup	NCBI36
NG_016985.1:g.15463_15485dup
NG_033129.1:g.57323_57345dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.625+41_625+63dup
ENST00000529110.2:c.610+41_610+63dup	ENSP00000435349.2:n.610+41_610+63dup
ENST00000529957.6:n.584+41_584+63dup
ENST00000683366.1:c.*258+41_*258+63dup	ENSP00000507283.1:n.*258+41_*258+63dup
ENST00000683887.1:c.574+41_574+63dup	ENSP00000506886.1:n.574+41_574+63dup
ENST00000684100.1:n.520+41_520+63dup
ENST00000684126.1:n.584+41_584+63dup
ENST00000684688.1:n.1151+41_1151+63dup
ENST00000204679.9:c.526+41_526+63dup MANE Select	ENSP00000204679.4:n.526+41_526+63dup
ENST00000204679.8:c.526+41_526+63dup	ENSP00000204679.4:n.526+41_526+63dup
ENST00000527076.1:n.1583_1605dup
ENST00000527168.5:n.603_625dup
ENST00000529957.5:n.625+41_625+63dup
NM_032520.4:c.526+41_526+63dup	NP_115909.1:n.526+41_526+63dup
XM_017023782.1:c.574+41_574+63dup	XP_016879271.1:n.574+41_574+63dup
XM_017023783.1:c.166+41_166+63dup	XP_016879272.1:n.166+41_166+63dup
NM_032520.5:c.526+41_526+63dup MANE Select	NP_115909.1:n.526+41_526+63dup