Canonical Allele Identifier: CA394188398

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362620-A-G
• MyVariant Identifiers: chr16:g.1412621A>G (hg19) ; chr16:g.1362620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362620A>G , CM000678.2:g.1362620A>G	GRCh38
NC_000016.9:g.1412621A>G , CM000678.1:g.1412621A>G	GRCh37
NC_000016.8:g.1352622A>G	NCBI36
NG_016985.1:g.15722A>G
NG_033129.1:g.57085T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.718A>G
ENST00000529110.2:c.703A>G	ENSP00000435349.2:p.Lys235Glu
ENST00000529957.6:n.677A>G
ENST00000683366.1:c.*351A>G	ENSP00000507283.1:n.*351A>G
ENST00000683887.1:c.667A>G	ENSP00000506886.1:p.Lys223Glu
ENST00000684100.1:n.613A>G
ENST00000684126.1:n.753A>G
ENST00000684688.1:n.1244A>G
ENST00000204679.9:c.619A>G MANE Select	ENSP00000204679.4:p.Lys207Glu
ENST00000204679.8:c.619A>G	ENSP00000204679.4:p.Lys207Glu
ENST00000527076.1:n.1842A>G
ENST00000527168.5:n.786A>G
ENST00000529957.5:n.718A>G
NM_032520.4:c.619A>G	NP_115909.1:p.Lys207Glu
XM_017023782.1:c.667A>G	XP_016879271.1:p.Lys223Glu
XM_017023783.1:c.259A>G	XP_016879272.1:p.Lys87Glu
NM_032520.5:c.619A>G MANE Select	NP_115909.1:p.Lys207Glu