Canonical Allele Identifier: CA360733185

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1244957350
• gnomAD v2: 5-125928408-T-C
• gnomAD v4: 5-126592716-T-C
• MyVariant Identifiers: chr5:g.125928408T>C (hg19) ; chr5:g.126592716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592716T>C , CM000667.2:g.126592716T>C	GRCh38
NC_000005.9:g.125928408T>C , CM000667.1:g.125928408T>C	GRCh37
NC_000005.8:g.125956307T>C	NCBI36
NG_008600.2:g.7675A>G
NG_008600.3:g.7675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.260A>G MANE Select	ENSP00000387123.3:p.Asp87Gly
ENST00000412186.2:c.260A>G	ENSP00000414536.2:p.Asp87Gly
ENST00000413020.6:c.260A>G	ENSP00000487936.1:p.Asp87Gly
ENST00000458249.6:c.*169A>G	ENSP00000403929.1:n.*169A>G
ENST00000479989.6:n.443A>G
ENST00000503281.6:c.106+2291A>G
ENST00000509270.2:c.246+635A>G	ENSP00000449318.2:n.246+635A>G
ENST00000509459.6:c.65+2291A>G
ENST00000511266.6:n.982A>G
ENST00000635851.1:c.258A>G
ENST00000635858.1:n.99A>G
ENST00000635933.1:n.289A>G
ENST00000636062.1:n.155A>G
ENST00000636190.1:n.139A>G
ENST00000636225.1:c.*69A>G	ENSP00000490797.1:n.*69A>G
ENST00000636743.1:c.192+2291A>G	ENSP00000489725.1:n.192+2291A>G
ENST00000636808.1:c.*69A>G	ENSP00000490833.1:n.*69A>G
ENST00000636872.1:c.420A>G	ENSP00000490919.1:n.420A>G
ENST00000636879.1:c.260A>G	ENSP00000490811.1:p.Asp87Gly
ENST00000636886.1:c.192+2291A>G	ENSP00000490371.1:n.192+2291A>G
ENST00000637206.1:c.260A>G	ENSP00000489895.1:p.Asp87Gly
ENST00000637272.1:c.260A>G	ENSP00000489686.1:p.Asp87Gly
ENST00000637782.1:c.260A>G	ENSP00000490024.1:p.Asp87Gly
ENST00000637964.1:c.206A>G	ENSP00000490291.1:p.Asp69Gly
ENST00000638008.1:c.*69A>G	ENSP00000490400.1:n.*69A>G
ENST00000409134.7:c.260A>G	ENSP00000387123.3:p.Asp87Gly
ENST00000412186.1:c.*69A>G	ENSP00000414536.1:n.*69A>G
ENST00000413020.5:c.260A>G	ENSP00000487936.1:p.Asp87Gly
ENST00000447989.6:c.341A>G	ENSP00000414132.2:p.Asp114Gly
ENST00000458249.5:c.420A>G	ENSP00000403929.1:n.420A>G
ENST00000479989.5:n.443A>G
ENST00000503281.5:c.106+2291A>G
ENST00000509270.1:c.192+2291A>G	ENSP00000449318.1:n.192+2291A>G
ENST00000509459.5:c.65+2291A>G
ENST00000510111.6:c.254A>G	ENSP00000447388.1:p.Asp85Gly
ENST00000511266.5:n.215A>G
ENST00000553117.5:c.260A>G	ENSP00000448593.1:p.Asp87Gly
NM_001182.4:c.260A>G	NP_001173.2:p.Asp87Gly
NM_001201377.1:c.176A>G	NP_001188306.1:p.Asp59Gly
NM_001202404.1:c.341A>G	NP_001189333.1:p.Asp114Gly
XM_011543417.1:c.-146A>G	XP_011541719.1:n.-146A>G
XM_011543417.2:c.-146A>G	XP_011541719.1:n.-146A>G
NM_001182.5:c.260A>G MANE Select	NP_001173.2:p.Asp87Gly
NM_001201377.2:c.176A>G	NP_001188306.1:p.Asp59Gly
NM_001202404.2:c.260A>G	NP_001189333.2:p.Asp87Gly