Canonical Allele Identifier: CA394188622

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362730-A-C
• MyVariant Identifiers: chr16:g.1412731A>C (hg19) ; chr16:g.1362730A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362730A>C , CM000678.2:g.1362730A>C	GRCh38
NC_000016.9:g.1412731A>C , CM000678.1:g.1412731A>C	GRCh37
NC_000016.8:g.1352732A>C	NCBI36
NG_016985.1:g.15832A>C
NG_033129.1:g.56975T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.828A>C
ENST00000529110.2:c.813A>C	ENSP00000435349.2:p.Glu271Asp
ENST00000529957.6:n.787A>C
ENST00000683366.1:c.*461A>C	ENSP00000507283.1:n.*461A>C
ENST00000683887.1:c.777A>C	ENSP00000506886.1:p.Glu259Asp
ENST00000684100.1:n.723A>C
ENST00000684126.1:n.863A>C
ENST00000684688.1:n.1354A>C
ENST00000204679.9:c.729A>C MANE Select	ENSP00000204679.4:p.Glu243Asp
ENST00000204679.8:c.729A>C	ENSP00000204679.4:p.Glu243Asp
ENST00000527076.1:n.1952A>C
ENST00000527168.5:n.896A>C
ENST00000529957.5:n.828A>C
NM_032520.4:c.729A>C	NP_115909.1:p.Glu243Asp
XM_017023782.1:c.777A>C	XP_016879271.1:p.Glu259Asp
XM_017023783.1:c.369A>C	XP_016879272.1:p.Glu123Asp
NM_032520.5:c.729A>C MANE Select	NP_115909.1:p.Glu243Asp