Canonical Allele Identifier: CA446284269

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125918576T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582884T>G , CM000667.2:g.126582884T>G	GRCh38
NC_000005.9:g.125918576T>G , CM000667.1:g.125918576T>G	GRCh37
NC_000005.8:g.125946475T>G	NCBI36
NG_008600.2:g.17507A>C
NG_008600.3:g.17507A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.484A>C MANE Select	ENSP00000387123.3:p.Arg162=
ENST00000412186.2:c.393+1048A>C	ENSP00000414536.2:n.393+1048A>C
ENST00000413020.6:c.484A>C	ENSP00000487936.1:p.Arg162=
ENST00000458249.6:c.*393A>C	ENSP00000403929.1:n.*393A>C
ENST00000503281.6:c.107-5673A>C
ENST00000509270.2:c.418A>C	ENSP00000449318.2:p.Arg140=
ENST00000509459.6:c.66-5673A>C
ENST00000511266.6:n.1206A>C
ENST00000635851.1:c.482A>C
ENST00000636062.1:n.379A>C
ENST00000636190.1:n.363A>C
ENST00000636225.1:c.*293A>C	ENSP00000490797.1:n.*293A>C
ENST00000636286.1:n.202A>C
ENST00000636743.1:c.364A>C	ENSP00000489725.1:p.Arg122=
ENST00000636808.1:c.*293A>C	ENSP00000490833.1:n.*293A>C
ENST00000636872.1:c.644A>C	ENSP00000490919.1:n.644A>C
ENST00000636879.1:c.484A>C	ENSP00000490811.1:p.Arg162=
ENST00000636886.1:c.283A>C	ENSP00000490371.1:p.Arg95=
ENST00000637070.1:n.98A>C
ENST00000637206.1:c.484A>C	ENSP00000489895.1:p.Arg162=
ENST00000637272.1:c.484A>C	ENSP00000489686.1:p.Arg162=
ENST00000637292.1:c.137A>C
ENST00000637782.1:c.484A>C	ENSP00000490024.1:p.Arg162=
ENST00000637964.1:c.430A>C	ENSP00000490291.1:p.Arg144=
ENST00000638008.1:c.*426A>C	ENSP00000490400.1:n.*426A>C
ENST00000409134.7:c.484A>C	ENSP00000387123.3:p.Arg162=
ENST00000413020.5:c.484A>C	ENSP00000487936.1:p.Arg162=
ENST00000447989.6:c.565A>C	ENSP00000414132.2:p.Arg189=
ENST00000458249.5:c.644A>C	ENSP00000403929.1:n.644A>C
ENST00000503281.5:c.107-5673A>C
ENST00000509270.1:c.364A>C	ENSP00000449318.1:p.Arg122=
ENST00000509459.5:c.66-5673A>C
ENST00000510111.6:c.397A>C	ENSP00000447388.1:p.Arg133=
ENST00000511266.5:n.348+1048A>C
ENST00000553117.5:c.484A>C	ENSP00000448593.1:p.Arg162=
NM_001182.4:c.484A>C	NP_001173.2:p.Arg162=
NM_001201377.1:c.400A>C	NP_001188306.1:p.Arg134=
NM_001202404.1:c.565A>C	NP_001189333.1:p.Arg189=
XM_011543417.1:c.79A>C	XP_011541719.1:p.Arg27=
XM_011543417.2:c.79A>C	XP_011541719.1:p.Arg27=
NM_001182.5:c.484A>C MANE Select	NP_001173.2:p.Arg162=
NM_001201377.2:c.400A>C	NP_001188306.1:p.Arg134=
NM_001202404.2:c.484A>C	NP_001189333.2:p.Arg162=