Canonical Allele Identifier: CA394188303

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412515G>T (hg19) ; chr16:g.1362514G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362514G>T , CM000678.2:g.1362514G>T	GRCh38
NC_000016.9:g.1412515G>T , CM000678.1:g.1412515G>T	GRCh37
NC_000016.8:g.1352516G>T	NCBI36
NG_016985.1:g.15616G>T
NG_033129.1:g.57191C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000527168.6:n.688G>T
ENST00000529110.2:c.673G>T	ENSP00000435349.2:p.Asp225Tyr
ENST00000529957.6:n.647G>T
ENST00000683366.1:c.*321G>T	ENSP00000507283.1:n.*321G>T
ENST00000683887.1:c.637G>T	ENSP00000506886.1:p.Asp213Tyr
ENST00000684100.1:n.583G>T
ENST00000684126.1:n.647G>T
ENST00000684688.1:n.1214G>T
ENST00000204679.9:c.589G>T MANE Select	ENSP00000204679.4:p.Asp197Tyr
ENST00000204679.8:c.589G>T	ENSP00000204679.4:p.Asp197Tyr
ENST00000527076.1:n.1736G>T
ENST00000527168.5:n.756G>T
ENST00000529957.5:n.688G>T
NM_032520.4:c.589G>T	NP_115909.1:p.Asp197Tyr
XM_017023782.1:c.637G>T	XP_016879271.1:p.Asp213Tyr
XM_017023783.1:c.229G>T	XP_016879272.1:p.Asp77Tyr
NM_032520.5:c.589G>T MANE Select	NP_115909.1:p.Asp197Tyr