Canonical Allele Identifier: CA493026513

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412042C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362041C>A , CM000678.2:g.1362041C>A	GRCh38
NC_000016.9:g.1412042C>A , CM000678.1:g.1412042C>A	GRCh37
NC_000016.8:g.1352043C>A	NCBI36
NG_016985.1:g.15143C>A
NG_033129.1:g.57664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.420C>A
ENST00000529110.2:c.405C>A	ENSP00000435349.2:p.Ile135=
ENST00000529957.6:n.379C>A
ENST00000683366.1:c.*53C>A	ENSP00000507283.1:n.*53C>A
ENST00000683887.1:c.369C>A	ENSP00000506886.1:p.Ile123=
ENST00000684100.1:n.315C>A
ENST00000684126.1:n.379C>A
ENST00000684688.1:n.946C>A
ENST00000204679.9:c.321C>A MANE Select	ENSP00000204679.4:p.Ile107=
ENST00000204679.8:c.321C>A	ENSP00000204679.4:p.Ile107=
ENST00000526820.5:c.*223C>A	ENSP00000434413.1:n.*223C>A
ENST00000527076.1:n.1337C>A
ENST00000527168.5:n.357C>A
ENST00000529110.1:c.388C>A
ENST00000529957.5:n.420C>A
NM_032520.4:c.321C>A	NP_115909.1:p.Ile107=
XM_017023782.1:c.369C>A	XP_016879271.1:p.Ile123=
XM_017023783.1:c.-40C>A	XP_016879272.1:n.-40C>A
NM_032520.5:c.321C>A MANE Select	NP_115909.1:p.Ile107=