Canonical Allele Identifier: CA360731005

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 430453
• ClinVar RCV Id: RCV000493900 ; RCV001294984
• dbSNP Id: rs1131691976
• gnomAD v4: 5-126577097-C-A
• MyVariant Identifiers: chr5:g.125912789C>A (hg19) ; chr5:g.126577097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577097C>A , CM000667.2:g.126577097C>A	GRCh38
NC_000005.9:g.125912789C>A , CM000667.1:g.125912789C>A	GRCh37
NC_000005.8:g.125940688C>A	NCBI36
NG_008600.2:g.23294G>T
NG_008600.3:g.23294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.632G>T MANE Select	ENSP00000387123.3:p.Cys211Phe
ENST00000412186.2:c.508G>T	ENSP00000414536.2:n.508G>T
ENST00000413020.6:c.632G>T	ENSP00000487936.1:p.Cys211Phe
ENST00000458249.6:c.*541G>T	ENSP00000403929.1:n.*541G>T
ENST00000503281.6:c.221G>T
ENST00000509270.2:c.566G>T	ENSP00000449318.2:p.Cys189Phe
ENST00000509459.6:c.180G>T
ENST00000511266.6:n.1354G>T
ENST00000635851.1:c.630G>T
ENST00000636062.1:n.527G>T
ENST00000636225.1:c.*441G>T	ENSP00000490797.1:n.*441G>T
ENST00000636286.1:n.350G>T
ENST00000636743.1:c.512G>T	ENSP00000489725.1:p.Cys171Phe
ENST00000636808.1:c.*441G>T	ENSP00000490833.1:n.*441G>T
ENST00000636872.1:c.792G>T	ENSP00000490919.1:n.792G>T
ENST00000636879.1:c.677G>T	ENSP00000490811.1:p.Cys226Phe
ENST00000636886.1:c.431G>T	ENSP00000490371.1:p.Cys144Phe
ENST00000637206.1:c.632G>T	ENSP00000489895.1:p.Cys211Phe
ENST00000637272.1:c.632G>T	ENSP00000489686.1:p.Cys211Phe
ENST00000637292.1:c.285G>T
ENST00000637782.1:c.632G>T	ENSP00000490024.1:p.Cys211Phe
ENST00000637964.1:c.578G>T	ENSP00000490291.1:p.Cys193Phe
ENST00000638008.1:c.*574G>T	ENSP00000490400.1:n.*574G>T
ENST00000409134.7:c.632G>T	ENSP00000387123.3:p.Cys211Phe
ENST00000413020.5:c.632G>T	ENSP00000487936.1:p.Cys211Phe
ENST00000433026.5:n.159G>T
ENST00000447989.6:c.713G>T	ENSP00000414132.2:p.Cys238Phe
ENST00000458249.5:c.792G>T	ENSP00000403929.1:n.792G>T
ENST00000503281.5:c.221G>T
ENST00000509459.5:c.180G>T
ENST00000510111.6:c.545G>T	ENSP00000447388.1:p.Cys182Phe
ENST00000511266.5:n.463G>T
ENST00000553117.5:c.632G>T	ENSP00000448593.1:p.Cys211Phe
NM_001182.4:c.632G>T	NP_001173.2:p.Cys211Phe
NM_001201377.1:c.548G>T	NP_001188306.1:p.Cys183Phe
NM_001202404.1:c.713G>T	NP_001189333.1:p.Cys238Phe
XM_011543417.1:c.227G>T	XP_011541719.1:p.Cys76Phe
XM_011543417.2:c.227G>T	XP_011541719.1:p.Cys76Phe
NM_001182.5:c.632G>T MANE Select	NP_001173.2:p.Cys211Phe
NM_001201377.2:c.548G>T	NP_001188306.1:p.Cys183Phe
NM_001202404.2:c.632G>T	NP_001189333.2:p.Cys211Phe