Canonical Allele Identifier: CA446285597

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125928410T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592718T>G , CM000667.2:g.126592718T>G	GRCh38
NC_000005.9:g.125928410T>G , CM000667.1:g.125928410T>G	GRCh37
NC_000005.8:g.125956309T>G	NCBI36
NG_008600.2:g.7673A>C
NG_008600.3:g.7673A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.258A>C MANE Select	ENSP00000387123.3:p.Ala86=
ENST00000412186.2:c.258A>C	ENSP00000414536.2:p.Ala86=
ENST00000413020.6:c.258A>C	ENSP00000487936.1:p.Ala86=
ENST00000458249.6:c.*167A>C	ENSP00000403929.1:n.*167A>C
ENST00000479989.6:n.441A>C
ENST00000503281.6:c.106+2289A>C
ENST00000509270.2:c.246+633A>C	ENSP00000449318.2:n.246+633A>C
ENST00000509459.6:c.65+2289A>C
ENST00000511266.6:n.980A>C
ENST00000635851.1:c.256A>C
ENST00000635858.1:n.97A>C
ENST00000635933.1:n.287A>C
ENST00000636062.1:n.153A>C
ENST00000636190.1:n.137A>C
ENST00000636225.1:c.*67A>C	ENSP00000490797.1:n.*67A>C
ENST00000636743.1:c.192+2289A>C	ENSP00000489725.1:n.192+2289A>C
ENST00000636808.1:c.*67A>C	ENSP00000490833.1:n.*67A>C
ENST00000636872.1:c.418A>C	ENSP00000490919.1:n.418A>C
ENST00000636879.1:c.258A>C	ENSP00000490811.1:p.Ala86=
ENST00000636886.1:c.192+2289A>C	ENSP00000490371.1:n.192+2289A>C
ENST00000637206.1:c.258A>C	ENSP00000489895.1:p.Ala86=
ENST00000637272.1:c.258A>C	ENSP00000489686.1:p.Ala86=
ENST00000637782.1:c.258A>C	ENSP00000490024.1:p.Ala86=
ENST00000637964.1:c.204A>C	ENSP00000490291.1:p.Ala68=
ENST00000638008.1:c.*67A>C	ENSP00000490400.1:n.*67A>C
ENST00000409134.7:c.258A>C	ENSP00000387123.3:p.Ala86=
ENST00000412186.1:c.*67A>C	ENSP00000414536.1:n.*67A>C
ENST00000413020.5:c.258A>C	ENSP00000487936.1:p.Ala86=
ENST00000447989.6:c.339A>C	ENSP00000414132.2:p.Ala113=
ENST00000458249.5:c.418A>C	ENSP00000403929.1:n.418A>C
ENST00000479989.5:n.441A>C
ENST00000503281.5:c.106+2289A>C
ENST00000509270.1:c.192+2289A>C	ENSP00000449318.1:n.192+2289A>C
ENST00000509459.5:c.65+2289A>C
ENST00000510111.6:c.252A>C	ENSP00000447388.1:p.Ala84=
ENST00000511266.5:n.213A>C
ENST00000553117.5:c.258A>C	ENSP00000448593.1:p.Ala86=
NM_001182.4:c.258A>C	NP_001173.2:p.Ala86=
NM_001201377.1:c.174A>C	NP_001188306.1:p.Ala58=
NM_001202404.1:c.339A>C	NP_001189333.1:p.Ala113=
XM_011543417.1:c.-148A>C	XP_011541719.1:n.-148A>C
XM_011543417.2:c.-148A>C	XP_011541719.1:n.-148A>C
NM_001182.5:c.258A>C MANE Select	NP_001173.2:p.Ala86=
NM_001201377.2:c.174A>C	NP_001188306.1:p.Ala58=
NM_001202404.2:c.258A>C	NP_001189333.2:p.Ala86=