Canonical Allele Identifier: CA276656622

Gene: GNPTG

Linked Data

• dbSNP Id: rs543804571
• gnomAD v2: 16-1411909-C-A
• gnomAD v3: 16-1361908-C-A
• gnomAD v4: 16-1361908-C-A
• MyVariant Identifiers: chr16:g.1411909C>A (hg19) ; chr16:g.1361908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361908C>A , CM000678.2:g.1361908C>A	GRCh38
NC_000016.9:g.1411909C>A , CM000678.1:g.1411909C>A	GRCh37
NC_000016.8:g.1351910C>A	NCBI36
NG_016985.1:g.15010C>A
NG_033129.1:g.57797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.369C>A
ENST00000529110.2:c.354C>A	ENSP00000435349.2:p.Thr118=
ENST00000529957.6:n.328C>A
ENST00000683366.1:c.*2C>A	ENSP00000507283.1:n.*2C>A
ENST00000683887.1:c.318C>A	ENSP00000506886.1:p.Thr106=
ENST00000684100.1:n.264C>A
ENST00000684126.1:n.328C>A
ENST00000684688.1:n.895C>A
ENST00000204679.9:c.270C>A MANE Select	ENSP00000204679.4:p.Thr90=
ENST00000204679.8:c.270C>A	ENSP00000204679.4:p.Thr90=
ENST00000526820.5:c.*172C>A	ENSP00000434413.1:n.*172C>A
ENST00000527076.1:n.1286C>A
ENST00000527168.5:n.306C>A
ENST00000529110.1:c.337C>A
ENST00000529957.5:n.369C>A
NM_032520.4:c.270C>A	NP_115909.1:p.Thr90=
XM_017023782.1:c.318C>A	XP_016879271.1:p.Thr106=
XM_017023783.1:c.-91C>A	XP_016879272.1:n.-91C>A
NM_032520.5:c.270C>A MANE Select	NP_115909.1:p.Thr90=