Canonical Allele Identifier: CA126887568

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554311A>G , CM000667.2:g.126554311A>G	GRCh38
NC_000005.9:g.125890003A>G , CM000667.1:g.125890003A>G	GRCh37
NC_000005.8:g.125917902A>G	NCBI36
NG_008600.2:g.46080T>C
NG_008600.3:g.46080T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1176T>C MANE Select	NP_001173.2:p.Gly392=
ENST00000409134.8:c.1176T>C MANE Select	ENSP00000387123.3:p.Gly392=
NM_001182.4:c.1176T>C	NP_001173.2:p.Gly392=
NM_001201377.1:c.1092T>C	NP_001188306.1:p.Gly364=
NM_001201377.2:c.1092T>C	NP_001188306.1:p.Gly364=
NM_001202404.1:c.1090-2174T>C	NP_001189333.1:n.1090-2174T>C
NM_001202404.2:c.1009-2174T>C	NP_001189333.2:n.1009-2174T>C
ENST00000409134.7:c.1176T>C	ENSP00000387123.3:p.Gly392=
ENST00000447989.6:c.1090-2174T>C	ENSP00000414132.2:n.1090-2174T>C
ENST00000458249.6:c.*1085T>C	ENSP00000403929.1:n.*1085T>C
ENST00000497231.6:n.1386T>C
ENST00000497231.7:n.1603T>C
ENST00000503281.5:c.765T>C
ENST00000503281.6:c.765T>C
ENST00000553117.5:c.1009-2174T>C	ENSP00000448593.1:n.1009-2174T>C
ENST00000635851.1:c.1174T>C
ENST00000636062.1:n.1071T>C
ENST00000636225.1:c.*1120T>C	ENSP00000490797.1:n.*1120T>C
ENST00000636286.1:n.894T>C
ENST00000636482.1:n.663T>C
ENST00000636743.1:c.1056T>C	ENSP00000489725.1:p.Gly352=
ENST00000636808.1:c.*985T>C	ENSP00000490833.1:n.*985T>C
ENST00000636872.1:c.1336T>C	ENSP00000490919.1:n.1336T>C
ENST00000636879.1:c.1221T>C	ENSP00000490811.1:p.Gly407=
ENST00000636886.1:c.975T>C	ENSP00000490371.1:p.Gly325=
ENST00000637206.1:c.996T>C	ENSP00000489895.1:p.Gly332=
ENST00000637272.1:c.1167T>C	ENSP00000489686.1:p.Gly389=
ENST00000637292.1:c.749T>C
ENST00000637782.1:c.1176T>C	ENSP00000490024.1:p.Gly392=
ENST00000638008.1:c.*1020T>C	ENSP00000490400.1:n.*1020T>C
ENST00000638010.1:n.1122T>C
XM_011543417.1:c.771T>C	XP_011541719.1:p.Gly257=
XM_011543417.2:c.771T>C	XP_011541719.1:p.Gly257=