Canonical Allele Identifier: CA394187908

Gene: GNPTG

Linked Data

• dbSNP Id: rs758472393
• gnomAD v3: 16-1362290-C-G
• gnomAD v4: 16-1362290-C-G
• MyVariant Identifiers: chr16:g.1412291C>G (hg19) ; chr16:g.1362290C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362290C>G , CM000678.2:g.1362290C>G	GRCh38
NC_000016.9:g.1412291C>G , CM000678.1:g.1412291C>G	GRCh37
NC_000016.8:g.1352292C>G	NCBI36
NG_016985.1:g.15392C>G
NG_033129.1:g.57415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.595C>G
ENST00000529110.2:c.580C>G	ENSP00000435349.2:p.Pro194Ala
ENST00000529957.6:n.554C>G
ENST00000683366.1:c.*228C>G	ENSP00000507283.1:n.*228C>G
ENST00000683887.1:c.544C>G	ENSP00000506886.1:p.Pro182Ala
ENST00000684100.1:n.490C>G
ENST00000684126.1:n.554C>G
ENST00000684688.1:n.1121C>G
ENST00000204679.9:c.496C>G MANE Select	ENSP00000204679.4:p.Pro166Ala
ENST00000204679.8:c.496C>G	ENSP00000204679.4:p.Pro166Ala
ENST00000527076.1:n.1512C>G
ENST00000527168.5:n.532C>G
ENST00000529957.5:n.595C>G
NM_032520.4:c.496C>G	NP_115909.1:p.Pro166Ala
XM_017023782.1:c.544C>G	XP_016879271.1:p.Pro182Ala
XM_017023783.1:c.136C>G	XP_016879272.1:p.Pro46Ala
NM_032520.5:c.496C>G MANE Select	NP_115909.1:p.Pro166Ala