Canonical Allele Identifier: CA394188400

Gene: GNPTG

Linked Data

• dbSNP Id: rs969196696
• gnomAD v4: 16-1362621-A-G
• MyVariant Identifiers: chr16:g.1412622A>G (hg19) ; chr16:g.1362621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362621A>G , CM000678.2:g.1362621A>G	GRCh38
NC_000016.9:g.1412622A>G , CM000678.1:g.1412622A>G	GRCh37
NC_000016.8:g.1352623A>G	NCBI36
NG_016985.1:g.15723A>G
NG_033129.1:g.57084T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.719A>G
ENST00000529110.2:c.704A>G	ENSP00000435349.2:p.Lys235Arg
ENST00000529957.6:n.678A>G
ENST00000683366.1:c.*352A>G	ENSP00000507283.1:n.*352A>G
ENST00000683887.1:c.668A>G	ENSP00000506886.1:p.Lys223Arg
ENST00000684100.1:n.614A>G
ENST00000684126.1:n.754A>G
ENST00000684688.1:n.1245A>G
ENST00000204679.9:c.620A>G MANE Select	ENSP00000204679.4:p.Lys207Arg
ENST00000204679.8:c.620A>G	ENSP00000204679.4:p.Lys207Arg
ENST00000527076.1:n.1843A>G
ENST00000527168.5:n.787A>G
ENST00000529957.5:n.719A>G
NM_032520.4:c.620A>G	NP_115909.1:p.Lys207Arg
XM_017023782.1:c.668A>G	XP_016879271.1:p.Lys223Arg
XM_017023783.1:c.260A>G	XP_016879272.1:p.Lys87Arg
NM_032520.5:c.620A>G MANE Select	NP_115909.1:p.Lys207Arg