Canonical Allele Identifier: CA394187673

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412228A>C (hg19) ; chr16:g.1362227A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362227A>C , CM000678.2:g.1362227A>C	GRCh38
NC_000016.9:g.1412228A>C , CM000678.1:g.1412228A>C	GRCh37
NC_000016.8:g.1352229A>C	NCBI36
NG_016985.1:g.15329A>C
NG_033129.1:g.57478T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.532A>C
ENST00000529110.2:c.517A>C	ENSP00000435349.2:p.Ser173Arg
ENST00000529957.6:n.491A>C
ENST00000683366.1:c.*165A>C	ENSP00000507283.1:n.*165A>C
ENST00000683887.1:c.481A>C	ENSP00000506886.1:p.Ser161Arg
ENST00000684100.1:n.427A>C
ENST00000684126.1:n.491A>C
ENST00000684688.1:n.1058A>C
ENST00000204679.9:c.433A>C MANE Select	ENSP00000204679.4:p.Ser145Arg
ENST00000204679.8:c.433A>C	ENSP00000204679.4:p.Ser145Arg
ENST00000527076.1:n.1449A>C
ENST00000527168.5:n.469A>C
ENST00000529110.1:c.500A>C
ENST00000529957.5:n.532A>C
NM_032520.4:c.433A>C	NP_115909.1:p.Ser145Arg
XM_017023782.1:c.481A>C	XP_016879271.1:p.Ser161Arg
XM_017023783.1:c.73A>C	XP_016879272.1:p.Ser25Arg
NM_032520.5:c.433A>C MANE Select	NP_115909.1:p.Ser145Arg