Canonical Allele Identifier: CA394188419

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362630-G-A
• MyVariant Identifiers: chr16:g.1412631G>A (hg19) ; chr16:g.1362630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362630G>A , CM000678.2:g.1362630G>A	GRCh38
NC_000016.9:g.1412631G>A , CM000678.1:g.1412631G>A	GRCh37
NC_000016.8:g.1352632G>A	NCBI36
NG_016985.1:g.15732G>A
NG_033129.1:g.57075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.728G>A
ENST00000529110.2:c.713G>A	ENSP00000435349.2:p.Arg238Lys
ENST00000529957.6:n.687G>A
ENST00000683366.1:c.*361G>A	ENSP00000507283.1:n.*361G>A
ENST00000683887.1:c.677G>A	ENSP00000506886.1:p.Arg226Lys
ENST00000684100.1:n.623G>A
ENST00000684126.1:n.763G>A
ENST00000684688.1:n.1254G>A
ENST00000204679.9:c.629G>A MANE Select	ENSP00000204679.4:p.Arg210Lys
ENST00000204679.8:c.629G>A	ENSP00000204679.4:p.Arg210Lys
ENST00000527076.1:n.1852G>A
ENST00000527168.5:n.796G>A
ENST00000529957.5:n.728G>A
NM_032520.4:c.629G>A	NP_115909.1:p.Arg210Lys
XM_017023782.1:c.677G>A	XP_016879271.1:p.Arg226Lys
XM_017023783.1:c.269G>A	XP_016879272.1:p.Arg90Lys
NM_032520.5:c.629G>A MANE Select	NP_115909.1:p.Arg210Lys