Canonical Allele Identifier: CA446283965

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912791G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577099G>A , CM000667.2:g.126577099G>A	GRCh38
NC_000005.9:g.125912791G>A , CM000667.1:g.125912791G>A	GRCh37
NC_000005.8:g.125940690G>A	NCBI36
NG_008600.2:g.23292C>T
NG_008600.3:g.23292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.630C>T MANE Select	ENSP00000387123.3:p.Ile210=
ENST00000412186.2:c.506C>T	ENSP00000414536.2:n.506C>T
ENST00000413020.6:c.630C>T	ENSP00000487936.1:p.Ile210=
ENST00000458249.6:c.*539C>T	ENSP00000403929.1:n.*539C>T
ENST00000503281.6:c.219C>T
ENST00000509270.2:c.564C>T	ENSP00000449318.2:p.Ile188=
ENST00000509459.6:c.178C>T
ENST00000511266.6:n.1352C>T
ENST00000635851.1:c.628C>T
ENST00000636062.1:n.525C>T
ENST00000636225.1:c.*439C>T	ENSP00000490797.1:n.*439C>T
ENST00000636286.1:n.348C>T
ENST00000636743.1:c.510C>T	ENSP00000489725.1:p.Ile170=
ENST00000636808.1:c.*439C>T	ENSP00000490833.1:n.*439C>T
ENST00000636872.1:c.790C>T	ENSP00000490919.1:n.790C>T
ENST00000636879.1:c.675C>T	ENSP00000490811.1:p.Ile225=
ENST00000636886.1:c.429C>T	ENSP00000490371.1:p.Ile143=
ENST00000637206.1:c.630C>T	ENSP00000489895.1:p.Ile210=
ENST00000637272.1:c.630C>T	ENSP00000489686.1:p.Ile210=
ENST00000637292.1:c.283C>T
ENST00000637782.1:c.630C>T	ENSP00000490024.1:p.Ile210=
ENST00000637964.1:c.576C>T	ENSP00000490291.1:p.Ile192=
ENST00000638008.1:c.*572C>T	ENSP00000490400.1:n.*572C>T
ENST00000409134.7:c.630C>T	ENSP00000387123.3:p.Ile210=
ENST00000413020.5:c.630C>T	ENSP00000487936.1:p.Ile210=
ENST00000433026.5:n.157C>T
ENST00000447989.6:c.711C>T	ENSP00000414132.2:p.Ile237=
ENST00000458249.5:c.790C>T	ENSP00000403929.1:n.790C>T
ENST00000503281.5:c.219C>T
ENST00000509459.5:c.178C>T
ENST00000510111.6:c.543C>T	ENSP00000447388.1:p.Ile181=
ENST00000511266.5:n.461C>T
ENST00000553117.5:c.630C>T	ENSP00000448593.1:p.Ile210=
NM_001182.4:c.630C>T	NP_001173.2:p.Ile210=
NM_001201377.1:c.546C>T	NP_001188306.1:p.Ile182=
NM_001202404.1:c.711C>T	NP_001189333.1:p.Ile237=
XM_011543417.1:c.225C>T	XP_011541719.1:p.Ile75=
XM_011543417.2:c.225C>T	XP_011541719.1:p.Ile75=
NM_001182.5:c.630C>T MANE Select	NP_001173.2:p.Ile210=
NM_001201377.2:c.546C>T	NP_001188306.1:p.Ile182=
NM_001202404.2:c.630C>T	NP_001189333.2:p.Ile210=