Canonical Allele Identifier: CA394188778

Gene: GNPTG

Linked Data

• dbSNP Id: rs370064320
• gnomAD v4: 16-1362882-G-C
• MyVariant Identifiers: chr16:g.1412883G>C (hg19) ; chr16:g.1362882G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362882G>C , CM000678.2:g.1362882G>C	GRCh38
NC_000016.9:g.1412883G>C , CM000678.1:g.1412883G>C	GRCh37
NC_000016.8:g.1352884G>C	NCBI36
NG_016985.1:g.15984G>C
NG_033129.1:g.56823C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.898G>C
ENST00000529110.2:c.883G>C	ENSP00000435349.2:p.Gly295Arg
ENST00000529957.6:n.857G>C
ENST00000683366.1:c.*531G>C	ENSP00000507283.1:n.*531G>C
ENST00000683887.1:c.847G>C	ENSP00000506886.1:p.Gly283Arg
ENST00000684100.1:n.793G>C
ENST00000684126.1:n.933G>C
ENST00000684688.1:n.1424G>C
ENST00000204679.9:c.799G>C MANE Select	ENSP00000204679.4:p.Gly267Arg
ENST00000204679.8:c.799G>C	ENSP00000204679.4:p.Gly267Arg
ENST00000527076.1:n.2022G>C
ENST00000527168.5:n.966G>C
ENST00000529957.5:n.898G>C
NM_032520.4:c.799G>C	NP_115909.1:p.Gly267Arg
XM_017023782.1:c.847G>C	XP_016879271.1:p.Gly283Arg
XM_017023783.1:c.439G>C	XP_016879272.1:p.Gly147Arg
NM_032520.5:c.799G>C MANE Select	NP_115909.1:p.Gly267Arg