Canonical Allele Identifier: CA446283970

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912797G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577105G>T , CM000667.2:g.126577105G>T	GRCh38
NC_000005.9:g.125912797G>T , CM000667.1:g.125912797G>T	GRCh37
NC_000005.8:g.125940696G>T	NCBI36
NG_008600.2:g.23286C>A
NG_008600.3:g.23286C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.624C>A MANE Select	ENSP00000387123.3:p.Ala208=
ENST00000412186.2:c.500C>A	ENSP00000414536.2:n.500C>A
ENST00000413020.6:c.624C>A	ENSP00000487936.1:p.Ala208=
ENST00000458249.6:c.*533C>A	ENSP00000403929.1:n.*533C>A
ENST00000503281.6:c.213C>A
ENST00000509270.2:c.558C>A	ENSP00000449318.2:p.Ala186=
ENST00000509459.6:c.172C>A
ENST00000511266.6:n.1346C>A
ENST00000635851.1:c.622C>A
ENST00000636062.1:n.519C>A
ENST00000636225.1:c.*433C>A	ENSP00000490797.1:n.*433C>A
ENST00000636286.1:n.342C>A
ENST00000636743.1:c.504C>A	ENSP00000489725.1:p.Ala168=
ENST00000636808.1:c.*433C>A	ENSP00000490833.1:n.*433C>A
ENST00000636872.1:c.784C>A	ENSP00000490919.1:n.784C>A
ENST00000636879.1:c.669C>A	ENSP00000490811.1:p.Ala223=
ENST00000636886.1:c.423C>A	ENSP00000490371.1:p.Ala141=
ENST00000637206.1:c.624C>A	ENSP00000489895.1:p.Ala208=
ENST00000637272.1:c.624C>A	ENSP00000489686.1:p.Ala208=
ENST00000637292.1:c.277C>A
ENST00000637782.1:c.624C>A	ENSP00000490024.1:p.Ala208=
ENST00000637964.1:c.570C>A	ENSP00000490291.1:p.Ala190=
ENST00000638008.1:c.*566C>A	ENSP00000490400.1:n.*566C>A
ENST00000409134.7:c.624C>A	ENSP00000387123.3:p.Ala208=
ENST00000413020.5:c.624C>A	ENSP00000487936.1:p.Ala208=
ENST00000433026.5:n.151C>A
ENST00000447989.6:c.705C>A	ENSP00000414132.2:p.Ala235=
ENST00000458249.5:c.784C>A	ENSP00000403929.1:n.784C>A
ENST00000503281.5:c.213C>A
ENST00000509459.5:c.172C>A
ENST00000510111.6:c.537C>A	ENSP00000447388.1:p.Ala179=
ENST00000511266.5:n.455C>A
ENST00000553117.5:c.624C>A	ENSP00000448593.1:p.Ala208=
NM_001182.4:c.624C>A	NP_001173.2:p.Ala208=
NM_001201377.1:c.540C>A	NP_001188306.1:p.Ala180=
NM_001202404.1:c.705C>A	NP_001189333.1:p.Ala235=
XM_011543417.1:c.219C>A	XP_011541719.1:p.Ala73=
XM_011543417.2:c.219C>A	XP_011541719.1:p.Ala73=
NM_001182.5:c.624C>A MANE Select	NP_001173.2:p.Ala208=
NM_001201377.2:c.540C>A	NP_001188306.1:p.Ala180=
NM_001202404.2:c.624C>A	NP_001189333.2:p.Ala208=