Canonical Allele Identifier: CA394188811

Gene: GNPTG

Linked Data

• dbSNP Id: rs1182864674
• gnomAD v2: 16-1412900-G-C
• MyVariant Identifiers: chr16:g.1412900G>C (hg19) ; chr16:g.1362899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362899G>C , CM000678.2:g.1362899G>C	GRCh38
NC_000016.9:g.1412900G>C , CM000678.1:g.1412900G>C	GRCh37
NC_000016.8:g.1352901G>C	NCBI36
NG_016985.1:g.16001G>C
NG_033129.1:g.56806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.915G>C
ENST00000529110.2:c.900G>C	ENSP00000435349.2:p.Arg300Ser
ENST00000529957.6:n.874G>C
ENST00000683366.1:c.*548G>C	ENSP00000507283.1:n.*548G>C
ENST00000683887.1:c.864G>C	ENSP00000506886.1:p.Arg288Ser
ENST00000684100.1:n.810G>C
ENST00000684126.1:n.950G>C
ENST00000684688.1:n.1441G>C
ENST00000204679.9:c.816G>C MANE Select	ENSP00000204679.4:p.Arg272Ser
ENST00000204679.8:c.816G>C	ENSP00000204679.4:p.Arg272Ser
ENST00000527076.1:n.2039G>C
ENST00000527168.5:n.983G>C
ENST00000529957.5:n.915G>C
NM_032520.4:c.816G>C	NP_115909.1:p.Arg272Ser
XM_017023782.1:c.864G>C	XP_016879271.1:p.Arg288Ser
XM_017023783.1:c.456G>C	XP_016879272.1:p.Arg152Ser
NM_032520.5:c.816G>C MANE Select	NP_115909.1:p.Arg272Ser