Canonical Allele Identifier: CA394186665

Gene: GNPTG

Linked Data

• dbSNP Id: rs200507633
• gnomAD v3: 16-1361797-C-G
• gnomAD v4: 16-1361797-C-G
• MyVariant Identifiers: chr16:g.1411798C>G (hg19) ; chr16:g.1361797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361797C>G , CM000678.2:g.1361797C>G	GRCh38
NC_000016.9:g.1411798C>G , CM000678.1:g.1411798C>G	GRCh37
NC_000016.8:g.1351799C>G	NCBI36
NG_016985.1:g.14899C>G
NG_033129.1:g.57908G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.332C>G
ENST00000529110.2:c.317C>G	ENSP00000435349.2:p.Thr106Arg
ENST00000529957.6:n.291C>G
ENST00000683366.1:c.179-75C>G	ENSP00000507283.1:n.179-75C>G
ENST00000683887.1:c.281C>G	ENSP00000506886.1:p.Thr94Arg
ENST00000684100.1:n.153C>G
ENST00000684126.1:n.291C>G
ENST00000684688.1:n.858C>G
ENST00000204679.9:c.233C>G MANE Select	ENSP00000204679.4:p.Thr78Arg
ENST00000204679.8:c.233C>G	ENSP00000204679.4:p.Thr78Arg
ENST00000526820.5:c.*135C>G	ENSP00000434413.1:n.*135C>G
ENST00000527076.1:n.1175C>G
ENST00000527168.5:n.270-75C>G
ENST00000529110.1:c.300C>G
ENST00000529957.5:n.332C>G
NM_032520.4:c.233C>G	NP_115909.1:p.Thr78Arg
XM_017023782.1:c.281C>G	XP_016879271.1:p.Thr94Arg
XM_017023783.1:c.-128C>G	XP_016879272.1:n.-128C>G
NM_032520.5:c.233C>G MANE Select	NP_115909.1:p.Thr78Arg