Canonical Allele Identifier: CA394187726

Gene: GNPTG

Linked Data

• dbSNP Id: rs2034905613
• MyVariant Identifiers: chr16:g.1412240G>A (hg19) ; chr16:g.1362239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362239G>A , CM000678.2:g.1362239G>A	GRCh38
NC_000016.9:g.1412240G>A , CM000678.1:g.1412240G>A	GRCh37
NC_000016.8:g.1352241G>A	NCBI36
NG_016985.1:g.15341G>A
NG_033129.1:g.57466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.544G>A
ENST00000529110.2:c.529G>A	ENSP00000435349.2:p.Ala177Thr
ENST00000529957.6:n.503G>A
ENST00000683366.1:c.*177G>A	ENSP00000507283.1:n.*177G>A
ENST00000683887.1:c.493G>A	ENSP00000506886.1:p.Ala165Thr
ENST00000684100.1:n.439G>A
ENST00000684126.1:n.503G>A
ENST00000684688.1:n.1070G>A
ENST00000204679.9:c.445G>A MANE Select	ENSP00000204679.4:p.Ala149Thr
ENST00000204679.8:c.445G>A	ENSP00000204679.4:p.Ala149Thr
ENST00000527076.1:n.1461G>A
ENST00000527168.5:n.481G>A
ENST00000529110.1:c.512G>A
ENST00000529957.5:n.544G>A
NM_032520.4:c.445G>A	NP_115909.1:p.Ala149Thr
XM_017023782.1:c.493G>A	XP_016879271.1:p.Ala165Thr
XM_017023783.1:c.85G>A	XP_016879272.1:p.Ala29Thr
NM_032520.5:c.445G>A MANE Select	NP_115909.1:p.Ala149Thr