Canonical Allele Identifier: CA360731134

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912846G>C (hg19) ; chr5:g.126577154G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577154G>C , CM000667.2:g.126577154G>C	GRCh38
NC_000005.9:g.125912846G>C , CM000667.1:g.125912846G>C	GRCh37
NC_000005.8:g.125940745G>C	NCBI36
NG_008600.2:g.23237C>G
NG_008600.3:g.23237C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.575C>G MANE Select	ENSP00000387123.3:p.Thr192Arg
ENST00000412186.2:c.451C>G	ENSP00000414536.2:n.451C>G
ENST00000413020.6:c.575C>G	ENSP00000487936.1:p.Thr192Arg
ENST00000458249.6:c.*484C>G	ENSP00000403929.1:n.*484C>G
ENST00000503281.6:c.164C>G
ENST00000509270.2:c.509C>G	ENSP00000449318.2:p.Thr170Arg
ENST00000509459.6:c.123C>G
ENST00000511266.6:n.1297C>G
ENST00000635851.1:c.573C>G
ENST00000636062.1:n.470C>G
ENST00000636225.1:c.*384C>G	ENSP00000490797.1:n.*384C>G
ENST00000636286.1:n.293C>G
ENST00000636743.1:c.455C>G	ENSP00000489725.1:p.Thr152Arg
ENST00000636808.1:c.*384C>G	ENSP00000490833.1:n.*384C>G
ENST00000636872.1:c.735C>G	ENSP00000490919.1:n.735C>G
ENST00000636879.1:c.620C>G	ENSP00000490811.1:p.Thr207Arg
ENST00000636886.1:c.374C>G	ENSP00000490371.1:p.Thr125Arg
ENST00000637206.1:c.575C>G	ENSP00000489895.1:p.Thr192Arg
ENST00000637272.1:c.575C>G	ENSP00000489686.1:p.Thr192Arg
ENST00000637292.1:c.228C>G
ENST00000637782.1:c.575C>G	ENSP00000490024.1:p.Thr192Arg
ENST00000637964.1:c.521C>G	ENSP00000490291.1:p.Thr174Arg
ENST00000638008.1:c.*517C>G	ENSP00000490400.1:n.*517C>G
ENST00000409134.7:c.575C>G	ENSP00000387123.3:p.Thr192Arg
ENST00000413020.5:c.575C>G	ENSP00000487936.1:p.Thr192Arg
ENST00000433026.5:n.102C>G
ENST00000447989.6:c.656C>G	ENSP00000414132.2:p.Thr219Arg
ENST00000458249.5:c.735C>G	ENSP00000403929.1:n.735C>G
ENST00000503281.5:c.164C>G
ENST00000509459.5:c.123C>G
ENST00000510111.6:c.488C>G	ENSP00000447388.1:p.Thr163Arg
ENST00000511266.5:n.406C>G
ENST00000553117.5:c.575C>G	ENSP00000448593.1:p.Thr192Arg
NM_001182.4:c.575C>G	NP_001173.2:p.Thr192Arg
NM_001201377.1:c.491C>G	NP_001188306.1:p.Thr164Arg
NM_001202404.1:c.656C>G	NP_001189333.1:p.Thr219Arg
XM_011543417.1:c.170C>G	XP_011541719.1:p.Thr57Arg
XM_011543417.2:c.170C>G	XP_011541719.1:p.Thr57Arg
NM_001182.5:c.575C>G MANE Select	NP_001173.2:p.Thr192Arg
NM_001201377.2:c.491C>G	NP_001188306.1:p.Thr164Arg
NM_001202404.2:c.575C>G	NP_001189333.2:p.Thr192Arg