Canonical Allele Identifier: CA394188692

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412839T>A (hg19) ; chr16:g.1362838T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362838T>A , CM000678.2:g.1362838T>A	GRCh38
NC_000016.9:g.1412839T>A , CM000678.1:g.1412839T>A	GRCh37
NC_000016.8:g.1352840T>A	NCBI36
NG_016985.1:g.15940T>A
NG_033129.1:g.56867A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.854T>A
ENST00000529110.2:c.839T>A	ENSP00000435349.2:p.Leu280His
ENST00000529957.6:n.813T>A
ENST00000683366.1:c.*487T>A	ENSP00000507283.1:n.*487T>A
ENST00000683887.1:c.803T>A	ENSP00000506886.1:p.Leu268His
ENST00000684100.1:n.749T>A
ENST00000684126.1:n.889T>A
ENST00000684688.1:n.1380T>A
ENST00000204679.9:c.755T>A MANE Select	ENSP00000204679.4:p.Leu252His
ENST00000204679.8:c.755T>A	ENSP00000204679.4:p.Leu252His
ENST00000527076.1:n.1978T>A
ENST00000527168.5:n.922T>A
ENST00000529957.5:n.854T>A
NM_032520.4:c.755T>A	NP_115909.1:p.Leu252His
XM_017023782.1:c.803T>A	XP_016879271.1:p.Leu268His
XM_017023783.1:c.395T>A	XP_016879272.1:p.Leu132His
NM_032520.5:c.755T>A MANE Select	NP_115909.1:p.Leu252His