Canonical Allele Identifier: CA446280219

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882072A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546380A>C , CM000667.2:g.126546380A>C	GRCh38
NC_000005.9:g.125882072A>C , CM000667.1:g.125882072A>C	GRCh37
NC_000005.8:g.125909971A>C	NCBI36
NG_008600.2:g.54011T>G
NG_008600.3:g.54011T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1509T>G MANE Select	ENSP00000387123.3:p.Gly503=
ENST00000458249.6:c.*1418T>G	ENSP00000403929.1:n.*1418T>G
ENST00000485852.7:n.256T>G
ENST00000497231.7:n.1936T>G
ENST00000635851.1:c.1507T>G
ENST00000636225.1:c.*1453T>G	ENSP00000490797.1:n.*1453T>G
ENST00000636286.1:n.1274T>G
ENST00000636482.1:n.1043T>G
ENST00000636743.1:c.1389T>G	ENSP00000489725.1:p.Gly463=
ENST00000636808.1:c.*1318T>G	ENSP00000490833.1:n.*1318T>G
ENST00000636872.1:c.1669T>G	ENSP00000490919.1:n.1669T>G
ENST00000636879.1:c.1554T>G	ENSP00000490811.1:p.Gly518=
ENST00000636886.1:c.1308T>G	ENSP00000490371.1:p.Gly436=
ENST00000637206.1:c.1329T>G	ENSP00000489895.1:p.Gly443=
ENST00000637272.1:c.1500T>G	ENSP00000489686.1:p.Gly500=
ENST00000637292.1:c.965T>G
ENST00000637782.1:c.1509T>G	ENSP00000490024.1:p.Gly503=
ENST00000638008.1:c.*1353T>G	ENSP00000490400.1:n.*1353T>G
ENST00000638010.1:n.1455T>G
ENST00000409134.7:c.1509T>G	ENSP00000387123.3:p.Gly503=
ENST00000447989.6:c.1398T>G	ENSP00000414132.2:p.Gly466=
ENST00000485852.6:n.256T>G
ENST00000497231.6:n.1719T>G
ENST00000553117.5:c.1317T>G	ENSP00000448593.1:p.Gly439=
NM_001182.4:c.1509T>G	NP_001173.2:p.Gly503=
NM_001201377.1:c.1425T>G	NP_001188306.1:p.Gly475=
NM_001202404.1:c.1398T>G	NP_001189333.1:p.Gly466=
XM_011543417.1:c.1104T>G	XP_011541719.1:p.Gly368=
XM_011543417.2:c.1104T>G	XP_011541719.1:p.Gly368=
NM_001182.5:c.1509T>G MANE Select	NP_001173.2:p.Gly503=
NM_001201377.2:c.1425T>G	NP_001188306.1:p.Gly475=
NM_001202404.2:c.1317T>G	NP_001189333.2:p.Gly439=