Canonical Allele Identifier: CA1647257

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46975018G>A , CM000664.2:g.46975018G>A	GRCh38
NC_000002.11:g.47202157G>A , CM000664.1:g.47202157G>A	GRCh37
NC_000002.10:g.47055661G>A	NCBI36
NG_034143.1:g.63890G>A
NG_034143.2:g.63890G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.563G>A MANE Select	NP_065191.2:p.Arg188His
ENST00000319190.11:c.563G>A MANE Select	ENSP00000316699.5:p.Arg188His
NM_001288951.1:c.563G>A	NP_001275880.1:p.Arg188His
NM_001288951.2:c.563G>A	NP_001275880.1:p.Arg188His
NM_001288953.1:c.461G>A	NP_001275882.1:p.Arg154His
NM_001288953.2:c.461G>A	NP_001275882.1:p.Arg154His
NM_001288955.1:c.-342G>A	NP_001275884.1:n.-342G>A
NM_001288955.2:c.-342G>A	NP_001275884.1:n.-342G>A
NM_020458.3:c.563G>A	NP_065191.2:p.Arg188His
ENST00000319190.9:c.563G>A	ENSP00000316699.5:p.Arg188His
ENST00000394850.6:c.563G>A	ENSP00000378320.2:p.Arg188His
ENST00000409245.5:c.461G>A	ENSP00000386307.1:p.Arg154His
ENST00000409825.5:c.511G>A
ENST00000441914.5:c.562G>A
ENST00000461601.5:n.888G>A
ENST00000698500.1:n.1568G>A
XM_005264439.2:c.206G>A	XP_005264496.1:p.Arg69His
XM_005264439.4:c.206G>A	XP_005264496.1:p.Arg69His
XM_011532998.1:c.206G>A	XP_011531300.1:p.Arg69His
XM_011532998.3:c.206G>A	XP_011531300.1:p.Arg69His
XM_011532999.1:c.563G>A	XP_011531301.1:p.Arg188His
XM_011532999.2:c.563G>A	XP_011531301.1:p.Arg188His
XM_017004524.1:c.563G>A	XP_016860013.1:p.Arg188His
XM_017004525.1:c.395G>A	XP_016860014.1:p.Arg132His
XM_017004526.1:c.563G>A	XP_016860015.1:p.Arg188His
XM_017004529.1:c.563G>A	XP_016860018.1:p.Arg188His
XR_001738853.2:n.875G>A
XR_001738854.1:n.874G>A
XR_939696.1:n.868G>A