Canonical Allele Identifier: CA394188324

Gene: GNPTG

Linked Data

• gnomAD v4: 16-1362518-A-C
• MyVariant Identifiers: chr16:g.1412519A>C (hg19) ; chr16:g.1362518A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362518A>C , CM000678.2:g.1362518A>C	GRCh38
NC_000016.9:g.1412519A>C , CM000678.1:g.1412519A>C	GRCh37
NC_000016.8:g.1352520A>C	NCBI36
NG_016985.1:g.15620A>C
NG_033129.1:g.57187T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.692A>C
ENST00000529110.2:c.677A>C	ENSP00000435349.2:p.Glu226Ala
ENST00000529957.6:n.651A>C
ENST00000683366.1:c.*325A>C	ENSP00000507283.1:n.*325A>C
ENST00000683887.1:c.641A>C	ENSP00000506886.1:p.Glu214Ala
ENST00000684100.1:n.587A>C
ENST00000684126.1:n.651A>C
ENST00000684688.1:n.1218A>C
ENST00000204679.9:c.593A>C MANE Select	ENSP00000204679.4:p.Glu198Ala
ENST00000204679.8:c.593A>C	ENSP00000204679.4:p.Glu198Ala
ENST00000527076.1:n.1740A>C
ENST00000527168.5:n.760A>C
ENST00000529957.5:n.692A>C
NM_032520.4:c.593A>C	NP_115909.1:p.Glu198Ala
XM_017023782.1:c.641A>C	XP_016879271.1:p.Glu214Ala
XM_017023783.1:c.233A>C	XP_016879272.1:p.Glu78Ala
NM_032520.5:c.593A>C MANE Select	NP_115909.1:p.Glu198Ala