Canonical Allele Identifier: CA7807707

Gene: GNPTG

Linked Data

• ClinVar Variation Id: 712909
• ClinVar RCV Id: RCV000884957 ; RCV001830937 ; RCV003940513
• dbSNP Id: rs147109185
• ExAC: 16:1412245 T / G
• gnomAD v2: 16-1412245-T-G
• gnomAD v3: 16-1362244-T-G
• gnomAD v4: 16-1362244-T-G
• MyVariant Identifiers: chr16:g.1412245T>G (hg19) ; chr16:g.1362244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362244T>G , CM000678.2:g.1362244T>G	GRCh38
NC_000016.9:g.1412245T>G , CM000678.1:g.1412245T>G	GRCh37
NC_000016.8:g.1352246T>G	NCBI36
NG_016985.1:g.15346T>G
NG_033129.1:g.57461A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.549T>G
ENST00000529110.2:c.534T>G	ENSP00000435349.2:p.His178Gln
ENST00000529957.6:n.508T>G
ENST00000683366.1:c.*182T>G	ENSP00000507283.1:n.*182T>G
ENST00000683887.1:c.498T>G	ENSP00000506886.1:p.His166Gln
ENST00000684100.1:n.444T>G
ENST00000684126.1:n.508T>G
ENST00000684688.1:n.1075T>G
ENST00000204679.9:c.450T>G MANE Select	ENSP00000204679.4:p.His150Gln
ENST00000204679.8:c.450T>G	ENSP00000204679.4:p.His150Gln
ENST00000527076.1:n.1466T>G
ENST00000527168.5:n.486T>G
ENST00000529110.1:c.517T>G
ENST00000529957.5:n.549T>G
NM_032520.4:c.450T>G	NP_115909.1:p.His150Gln
XM_017023782.1:c.498T>G	XP_016879271.1:p.His166Gln
XM_017023783.1:c.90T>G	XP_016879272.1:p.His30Gln
NM_032520.5:c.450T>G MANE Select	NP_115909.1:p.His150Gln