Canonical Allele Identifier: CA360731032

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912796T>C (hg19) ; chr5:g.126577104T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577104T>C , CM000667.2:g.126577104T>C	GRCh38
NC_000005.9:g.125912796T>C , CM000667.1:g.125912796T>C	GRCh37
NC_000005.8:g.125940695T>C	NCBI36
NG_008600.2:g.23287A>G
NG_008600.3:g.23287A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.625A>G MANE Select	ENSP00000387123.3:p.Met209Val
ENST00000412186.2:c.501A>G	ENSP00000414536.2:n.501A>G
ENST00000413020.6:c.625A>G	ENSP00000487936.1:p.Met209Val
ENST00000458249.6:c.*534A>G	ENSP00000403929.1:n.*534A>G
ENST00000503281.6:c.214A>G
ENST00000509270.2:c.559A>G	ENSP00000449318.2:p.Met187Val
ENST00000509459.6:c.173A>G
ENST00000511266.6:n.1347A>G
ENST00000635851.1:c.623A>G
ENST00000636062.1:n.520A>G
ENST00000636225.1:c.*434A>G	ENSP00000490797.1:n.*434A>G
ENST00000636286.1:n.343A>G
ENST00000636743.1:c.505A>G	ENSP00000489725.1:p.Met169Val
ENST00000636808.1:c.*434A>G	ENSP00000490833.1:n.*434A>G
ENST00000636872.1:c.785A>G	ENSP00000490919.1:n.785A>G
ENST00000636879.1:c.670A>G	ENSP00000490811.1:p.Met224Val
ENST00000636886.1:c.424A>G	ENSP00000490371.1:p.Met142Val
ENST00000637206.1:c.625A>G	ENSP00000489895.1:p.Met209Val
ENST00000637272.1:c.625A>G	ENSP00000489686.1:p.Met209Val
ENST00000637292.1:c.278A>G
ENST00000637782.1:c.625A>G	ENSP00000490024.1:p.Met209Val
ENST00000637964.1:c.571A>G	ENSP00000490291.1:p.Met191Val
ENST00000638008.1:c.*567A>G	ENSP00000490400.1:n.*567A>G
ENST00000409134.7:c.625A>G	ENSP00000387123.3:p.Met209Val
ENST00000413020.5:c.625A>G	ENSP00000487936.1:p.Met209Val
ENST00000433026.5:n.152A>G
ENST00000447989.6:c.706A>G	ENSP00000414132.2:p.Met236Val
ENST00000458249.5:c.785A>G	ENSP00000403929.1:n.785A>G
ENST00000503281.5:c.214A>G
ENST00000509459.5:c.173A>G
ENST00000510111.6:c.538A>G	ENSP00000447388.1:p.Met180Val
ENST00000511266.5:n.456A>G
ENST00000553117.5:c.625A>G	ENSP00000448593.1:p.Met209Val
NM_001182.4:c.625A>G	NP_001173.2:p.Met209Val
NM_001201377.1:c.541A>G	NP_001188306.1:p.Met181Val
NM_001202404.1:c.706A>G	NP_001189333.1:p.Met236Val
XM_011543417.1:c.220A>G	XP_011541719.1:p.Met74Val
XM_011543417.2:c.220A>G	XP_011541719.1:p.Met74Val
NM_001182.5:c.625A>G MANE Select	NP_001173.2:p.Met209Val
NM_001201377.2:c.541A>G	NP_001188306.1:p.Met181Val
NM_001202404.2:c.625A>G	NP_001189333.2:p.Met209Val