Canonical Allele Identifier: CA2630959132

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1361985-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361986dup , CM000678.2:g.1361986dup	GRCh38
NC_000016.9:g.1411987dup , CM000678.1:g.1411987dup	GRCh37
NC_000016.8:g.1351988dup	NCBI36
NG_016985.1:g.15088dup
NG_033129.1:g.57719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.416+31dup
ENST00000529110.2:c.401+31dup	ENSP00000435349.2:n.401+31dup
ENST00000529957.6:n.375+31dup
ENST00000683366.1:c.*49+31dup	ENSP00000507283.1:n.*49+31dup
ENST00000683887.1:c.365+31dup	ENSP00000506886.1:n.365+31dup
ENST00000684100.1:n.311+31dup
ENST00000684126.1:n.375+31dup
ENST00000684688.1:n.942+31dup
ENST00000204679.9:c.317+31dup MANE Select	ENSP00000204679.4:n.317+31dup
ENST00000204679.8:c.317+31dup	ENSP00000204679.4:n.317+31dup
ENST00000526820.5:c.*219+31dup	ENSP00000434413.1:n.*219+31dup
ENST00000527076.1:n.1333+31dup
ENST00000527168.5:n.353+31dup
ENST00000529110.1:c.384+31dup
ENST00000529957.5:n.416+31dup
NM_032520.4:c.317+31dup	NP_115909.1:n.317+31dup
XM_017023782.1:c.365+31dup	XP_016879271.1:n.365+31dup
XM_017023783.1:c.-44+31dup	XP_016879272.1:n.-44+31dup
NM_032520.5:c.317+31dup MANE Select	NP_115909.1:n.317+31dup