Canonical Allele Identifier: CA718227152

Gene: GNPTG

Linked Data

• dbSNP Id: rs1328080791
• gnomAD v3: 16-1361679-C-G
• gnomAD v4: 16-1361679-C-G
• MyVariant Identifiers: chr16:g.1411680C>G (hg19) ; chr16:g.1361679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361679C>G , CM000678.2:g.1361679C>G	GRCh38
NC_000016.9:g.1411680C>G , CM000678.1:g.1411680C>G	GRCh37
NC_000016.8:g.1351681C>G	NCBI36
NG_016985.1:g.14781C>G
NG_033129.1:g.58026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.278-64C>G
ENST00000529110.2:c.263-64C>G	ENSP00000435349.2:n.263-64C>G
ENST00000529957.6:n.237-64C>G
ENST00000683366.1:c.179-193C>G	ENSP00000507283.1:n.179-193C>G
ENST00000683887.1:c.179-16C>G	ENSP00000506886.1:n.179-16C>G
ENST00000684100.1:n.35C>G
ENST00000684126.1:n.237-64C>G
ENST00000684688.1:n.740C>G
ENST00000204679.9:c.179-64C>G MANE Select	ENSP00000204679.4:n.179-64C>G
ENST00000204679.8:c.179-64C>G	ENSP00000204679.4:n.179-64C>G
ENST00000526820.5:c.*81-64C>G	ENSP00000434413.1:n.*81-64C>G
ENST00000527076.1:n.1057C>G
ENST00000527168.5:n.270-193C>G
ENST00000529110.1:c.246-64C>G
ENST00000529957.5:n.278-64C>G
NM_032520.4:c.179-64C>G	NP_115909.1:n.179-64C>G
XM_017023782.1:c.179-16C>G	XP_016879271.1:n.179-16C>G
XM_017023783.1:c.-182-64C>G	XP_016879272.1:n.-182-64C>G
NM_032520.5:c.179-64C>G MANE Select	NP_115909.1:n.179-64C>G