Canonical Allele Identifier: CA394188667

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362828-C-A
• MyVariant Identifiers: chr16:g.1412829C>A (hg19) ; chr16:g.1362828C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362828C>A , CM000678.2:g.1362828C>A	GRCh38
NC_000016.9:g.1412829C>A , CM000678.1:g.1412829C>A	GRCh37
NC_000016.8:g.1352830C>A	NCBI36
NG_016985.1:g.15930C>A
NG_033129.1:g.56877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.844C>A
ENST00000529110.2:c.829C>A	ENSP00000435349.2:p.His277Asn
ENST00000529957.6:n.803C>A
ENST00000683366.1:c.*477C>A	ENSP00000507283.1:n.*477C>A
ENST00000683887.1:c.793C>A	ENSP00000506886.1:p.His265Asn
ENST00000684100.1:n.739C>A
ENST00000684126.1:n.879C>A
ENST00000684688.1:n.1370C>A
ENST00000204679.9:c.745C>A MANE Select	ENSP00000204679.4:p.His249Asn
ENST00000204679.8:c.745C>A	ENSP00000204679.4:p.His249Asn
ENST00000527076.1:n.1968C>A
ENST00000527168.5:n.912C>A
ENST00000529957.5:n.844C>A
NM_032520.4:c.745C>A	NP_115909.1:p.His249Asn
XM_017023782.1:c.793C>A	XP_016879271.1:p.His265Asn
XM_017023783.1:c.385C>A	XP_016879272.1:p.His129Asn
NM_032520.5:c.745C>A MANE Select	NP_115909.1:p.His249Asn