Canonical Allele Identifier: CA346722770

Gene: TTC7A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46974973G>A , CM000664.2:g.46974973G>A	GRCh38
NC_000002.11:g.47202112G>A , CM000664.1:g.47202112G>A	GRCh37
NC_000002.10:g.47055616G>A	NCBI36
NG_034143.1:g.63845G>A
NG_034143.2:g.63845G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020458.4:c.518G>A MANE Select	NP_065191.2:p.Gly173Asp
ENST00000319190.11:c.518G>A MANE Select	ENSP00000316699.5:p.Gly173Asp
NM_001288951.1:c.518G>A	NP_001275880.1:p.Gly173Asp
NM_001288951.2:c.518G>A	NP_001275880.1:p.Gly173Asp
NM_001288953.1:c.416G>A	NP_001275882.1:p.Gly139Asp
NM_001288953.2:c.416G>A	NP_001275882.1:p.Gly139Asp
NM_001288955.1:c.-387G>A	NP_001275884.1:n.-387G>A
NM_001288955.2:c.-387G>A	NP_001275884.1:n.-387G>A
NM_020458.3:c.518G>A	NP_065191.2:p.Gly173Asp
ENST00000319190.9:c.518G>A	ENSP00000316699.5:p.Gly173Asp
ENST00000394850.6:c.518G>A	ENSP00000378320.2:p.Gly173Asp
ENST00000409245.5:c.416G>A	ENSP00000386307.1:p.Gly139Asp
ENST00000409825.5:c.466G>A
ENST00000441914.5:c.517G>A
ENST00000461601.5:n.843G>A
ENST00000698500.1:n.1523G>A
XM_005264439.2:c.161G>A	XP_005264496.1:p.Gly54Asp
XM_005264439.4:c.161G>A	XP_005264496.1:p.Gly54Asp
XM_011532998.1:c.161G>A	XP_011531300.1:p.Gly54Asp
XM_011532998.3:c.161G>A	XP_011531300.1:p.Gly54Asp
XM_011532999.1:c.518G>A	XP_011531301.1:p.Gly173Asp
XM_011532999.2:c.518G>A	XP_011531301.1:p.Gly173Asp
XM_017004524.1:c.518G>A	XP_016860013.1:p.Gly173Asp
XM_017004525.1:c.350G>A	XP_016860014.1:p.Gly117Asp
XM_017004526.1:c.518G>A	XP_016860015.1:p.Gly173Asp
XM_017004529.1:c.518G>A	XP_016860018.1:p.Gly173Asp
XR_001738853.2:n.830G>A
XR_001738854.1:n.829G>A
XR_939696.1:n.823G>A