Canonical Allele Identifier: CA394187685

Gene: GNPTG

Linked Data

• MyVariant Identifiers: chr16:g.1412230C>A (hg19) ; chr16:g.1362229C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362229C>A , CM000678.2:g.1362229C>A	GRCh38
NC_000016.9:g.1412230C>A , CM000678.1:g.1412230C>A	GRCh37
NC_000016.8:g.1352231C>A	NCBI36
NG_016985.1:g.15331C>A
NG_033129.1:g.57476G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.534C>A
ENST00000529110.2:c.519C>A	ENSP00000435349.2:p.Ser173Arg
ENST00000529957.6:n.493C>A
ENST00000683366.1:c.*167C>A	ENSP00000507283.1:n.*167C>A
ENST00000683887.1:c.483C>A	ENSP00000506886.1:p.Ser161Arg
ENST00000684100.1:n.429C>A
ENST00000684126.1:n.493C>A
ENST00000684688.1:n.1060C>A
ENST00000204679.9:c.435C>A MANE Select	ENSP00000204679.4:p.Ser145Arg
ENST00000204679.8:c.435C>A	ENSP00000204679.4:p.Ser145Arg
ENST00000527076.1:n.1451C>A
ENST00000527168.5:n.471C>A
ENST00000529110.1:c.502C>A
ENST00000529957.5:n.534C>A
NM_032520.4:c.435C>A	NP_115909.1:p.Ser145Arg
XM_017023782.1:c.483C>A	XP_016879271.1:p.Ser161Arg
XM_017023783.1:c.75C>A	XP_016879272.1:p.Ser25Arg
NM_032520.5:c.435C>A MANE Select	NP_115909.1:p.Ser145Arg