Canonical Allele Identifier: CA394188707

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412848A>C (hg19) ; chr16:g.1362847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362847A>C , CM000678.2:g.1362847A>C	GRCh38
NC_000016.9:g.1412848A>C , CM000678.1:g.1412848A>C	GRCh37
NC_000016.8:g.1352849A>C	NCBI36
NG_016985.1:g.15949A>C
NG_033129.1:g.56858T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.863A>C
ENST00000529110.2:c.848A>C	ENSP00000435349.2:p.Glu283Ala
ENST00000529957.6:n.822A>C
ENST00000683366.1:c.*496A>C	ENSP00000507283.1:n.*496A>C
ENST00000683887.1:c.812A>C	ENSP00000506886.1:p.Glu271Ala
ENST00000684100.1:n.758A>C
ENST00000684126.1:n.898A>C
ENST00000684688.1:n.1389A>C
ENST00000204679.9:c.764A>C MANE Select	ENSP00000204679.4:p.Glu255Ala
ENST00000204679.8:c.764A>C	ENSP00000204679.4:p.Glu255Ala
ENST00000527076.1:n.1987A>C
ENST00000527168.5:n.931A>C
ENST00000529957.5:n.863A>C
NM_032520.4:c.764A>C	NP_115909.1:p.Glu255Ala
XM_017023782.1:c.812A>C	XP_016879271.1:p.Glu271Ala
XM_017023783.1:c.404A>C	XP_016879272.1:p.Glu135Ala
NM_032520.5:c.764A>C MANE Select	NP_115909.1:p.Glu255Ala