Canonical Allele Identifier: CA7807734

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 1046783
• ClinVar RCV Id: RCV001351386
• dbSNP Id: rs113167728
• ExAC: 16:1412289 C / G
• gnomAD v2: 16-1412289-C-G
• gnomAD v3: 16-1362288-C-G
• gnomAD v4: 16-1362288-C-G
• MyVariant Identifiers: chr16:g.1412289C>G (hg19) ; chr16:g.1362288C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362288C>G , CM000678.2:g.1362288C>G	GRCh38
NC_000016.9:g.1412289C>G , CM000678.1:g.1412289C>G	GRCh37
NC_000016.8:g.1352290C>G	NCBI36
NG_016985.1:g.15390C>G
NG_033129.1:g.57417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.593C>G
ENST00000529110.2:c.578C>G	ENSP00000435349.2:p.Thr193Ser
ENST00000529957.6:n.552C>G
ENST00000683366.1:c.*226C>G	ENSP00000507283.1:n.*226C>G
ENST00000683887.1:c.542C>G	ENSP00000506886.1:p.Thr181Ser
ENST00000684100.1:n.488C>G
ENST00000684126.1:n.552C>G
ENST00000684688.1:n.1119C>G
ENST00000204679.9:c.494C>G MANE Select	ENSP00000204679.4:p.Thr165Ser
ENST00000204679.8:c.494C>G	ENSP00000204679.4:p.Thr165Ser
ENST00000527076.1:n.1510C>G
ENST00000527168.5:n.530C>G
ENST00000529957.5:n.593C>G
NM_032520.4:c.494C>G	NP_115909.1:p.Thr165Ser
XM_017023782.1:c.542C>G	XP_016879271.1:p.Thr181Ser
XM_017023783.1:c.134C>G	XP_016879272.1:p.Thr45Ser
NM_032520.5:c.494C>G MANE Select	NP_115909.1:p.Thr165Ser