Canonical Allele Identifier: CA7807906

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 2729399
• ClinVar RCV Id: RCV003559801
• dbSNP Id: rs372832123
• ExAC: 16:1412752 T / G
• gnomAD v2: 16-1412752-T-G
• gnomAD v3: 16-1362751-T-G
• gnomAD v4: 16-1362751-T-G
• MyVariant Identifiers: chr16:g.1412752T>G (hg19) ; chr16:g.1362751T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362751T>G , CM000678.2:g.1362751T>G	GRCh38
NC_000016.9:g.1412752T>G , CM000678.1:g.1412752T>G	GRCh37
NC_000016.8:g.1352753T>G	NCBI36
NG_016985.1:g.15853T>G
NG_033129.1:g.56954A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.840+9T>G
ENST00000529110.2:c.825+9T>G	ENSP00000435349.2:n.825+9T>G
ENST00000529957.6:n.799+9T>G
ENST00000683366.1:c.*473+9T>G	ENSP00000507283.1:n.*473+9T>G
ENST00000683887.1:c.789+9T>G	ENSP00000506886.1:n.789+9T>G
ENST00000684100.1:n.735+9T>G
ENST00000684126.1:n.875+9T>G
ENST00000684688.1:n.1366+9T>G
ENST00000204679.9:c.741+9T>G MANE Select	ENSP00000204679.4:n.741+9T>G
ENST00000204679.8:c.741+9T>G	ENSP00000204679.4:n.741+9T>G
ENST00000527076.1:n.1964+9T>G
ENST00000527168.5:n.908+9T>G
ENST00000529957.5:n.840+9T>G
NM_032520.4:c.741+9T>G	NP_115909.1:n.741+9T>G
XM_017023782.1:c.789+9T>G	XP_016879271.1:n.789+9T>G
XM_017023783.1:c.381+9T>G	XP_016879272.1:n.381+9T>G
NM_032520.5:c.741+9T>G MANE Select	NP_115909.1:n.741+9T>G