Canonical Allele Identifier: CA360730947

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912777C>A (hg19) ; chr5:g.126577085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577085C>A , CM000667.2:g.126577085C>A	GRCh38
NC_000005.9:g.125912777C>A , CM000667.1:g.125912777C>A	GRCh37
NC_000005.8:g.125940676C>A	NCBI36
NG_008600.2:g.23306G>T
NG_008600.3:g.23306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.644G>T MANE Select	ENSP00000387123.3:p.Cys215Phe
ENST00000412186.2:c.520G>T	ENSP00000414536.2:n.520G>T
ENST00000413020.6:c.644G>T	ENSP00000487936.1:p.Cys215Phe
ENST00000458249.6:c.*553G>T	ENSP00000403929.1:n.*553G>T
ENST00000503281.6:c.233G>T
ENST00000509270.2:c.578G>T	ENSP00000449318.2:p.Cys193Phe
ENST00000509459.6:c.192G>T
ENST00000511266.6:n.1366G>T
ENST00000635851.1:c.642G>T
ENST00000636062.1:n.539G>T
ENST00000636225.1:c.*453G>T	ENSP00000490797.1:n.*453G>T
ENST00000636286.1:n.362G>T
ENST00000636743.1:c.524G>T	ENSP00000489725.1:p.Cys175Phe
ENST00000636808.1:c.*453G>T	ENSP00000490833.1:n.*453G>T
ENST00000636872.1:c.804G>T	ENSP00000490919.1:n.804G>T
ENST00000636879.1:c.689G>T	ENSP00000490811.1:p.Cys230Phe
ENST00000636886.1:c.443G>T	ENSP00000490371.1:p.Cys148Phe
ENST00000637206.1:c.644G>T	ENSP00000489895.1:p.Cys215Phe
ENST00000637272.1:c.644G>T	ENSP00000489686.1:p.Cys215Phe
ENST00000637292.1:c.297G>T
ENST00000637782.1:c.644G>T	ENSP00000490024.1:p.Cys215Phe
ENST00000637964.1:c.590G>T	ENSP00000490291.1:p.Cys197Phe
ENST00000638008.1:c.*586G>T	ENSP00000490400.1:n.*586G>T
ENST00000409134.7:c.644G>T	ENSP00000387123.3:p.Cys215Phe
ENST00000413020.5:c.644G>T	ENSP00000487936.1:p.Cys215Phe
ENST00000433026.5:n.171G>T
ENST00000447989.6:c.725G>T	ENSP00000414132.2:p.Cys242Phe
ENST00000458249.5:c.804G>T	ENSP00000403929.1:n.804G>T
ENST00000503281.5:c.233G>T
ENST00000509459.5:c.192G>T
ENST00000510111.6:c.557G>T	ENSP00000447388.1:p.Cys186Phe
ENST00000511266.5:n.475G>T
ENST00000553117.5:c.644G>T	ENSP00000448593.1:p.Cys215Phe
NM_001182.4:c.644G>T	NP_001173.2:p.Cys215Phe
NM_001201377.1:c.560G>T	NP_001188306.1:p.Cys187Phe
NM_001202404.1:c.725G>T	NP_001189333.1:p.Cys242Phe
XM_011543417.1:c.239G>T	XP_011541719.1:p.Cys80Phe
XM_011543417.2:c.239G>T	XP_011541719.1:p.Cys80Phe
NM_001182.5:c.644G>T MANE Select	NP_001173.2:p.Cys215Phe
NM_001201377.2:c.560G>T	NP_001188306.1:p.Cys187Phe
NM_001202404.2:c.644G>T	NP_001189333.2:p.Cys215Phe