Canonical Allele Identifier: CA7807577

Gene: GNPTG

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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