Canonical Allele Identifier: CA360730965

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577089C>A , CM000667.2:g.126577089C>A	GRCh38
NC_000005.9:g.125912781C>A , CM000667.1:g.125912781C>A	GRCh37
NC_000005.8:g.125940680C>A	NCBI36
NG_008600.2:g.23302G>T
NG_008600.3:g.23302G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.640G>T MANE Select	ENSP00000387123.3:p.Val214Phe
ENST00000412186.2:c.516G>T	ENSP00000414536.2:n.516G>T
ENST00000413020.6:c.640G>T	ENSP00000487936.1:p.Val214Phe
ENST00000458249.6:c.*549G>T	ENSP00000403929.1:n.*549G>T
ENST00000503281.6:c.229G>T
ENST00000509270.2:c.574G>T	ENSP00000449318.2:p.Val192Phe
ENST00000509459.6:c.188G>T
ENST00000511266.6:n.1362G>T
ENST00000635851.1:c.638G>T
ENST00000636062.1:n.535G>T
ENST00000636225.1:c.*449G>T	ENSP00000490797.1:n.*449G>T
ENST00000636286.1:n.358G>T
ENST00000636743.1:c.520G>T	ENSP00000489725.1:p.Val174Phe
ENST00000636808.1:c.*449G>T	ENSP00000490833.1:n.*449G>T
ENST00000636872.1:c.800G>T	ENSP00000490919.1:n.800G>T
ENST00000636879.1:c.685G>T	ENSP00000490811.1:p.Val229Phe
ENST00000636886.1:c.439G>T	ENSP00000490371.1:p.Val147Phe
ENST00000637206.1:c.640G>T	ENSP00000489895.1:p.Val214Phe
ENST00000637272.1:c.640G>T	ENSP00000489686.1:p.Val214Phe
ENST00000637292.1:c.293G>T
ENST00000637782.1:c.640G>T	ENSP00000490024.1:p.Val214Phe
ENST00000637964.1:c.586G>T	ENSP00000490291.1:p.Val196Phe
ENST00000638008.1:c.*582G>T	ENSP00000490400.1:n.*582G>T
ENST00000409134.7:c.640G>T	ENSP00000387123.3:p.Val214Phe
ENST00000413020.5:c.640G>T	ENSP00000487936.1:p.Val214Phe
ENST00000433026.5:n.167G>T
ENST00000447989.6:c.721G>T	ENSP00000414132.2:p.Val241Phe
ENST00000458249.5:c.800G>T	ENSP00000403929.1:n.800G>T
ENST00000503281.5:c.229G>T
ENST00000509459.5:c.188G>T
ENST00000510111.6:c.553G>T	ENSP00000447388.1:p.Val185Phe
ENST00000511266.5:n.471G>T
ENST00000553117.5:c.640G>T	ENSP00000448593.1:p.Val214Phe
NM_001182.4:c.640G>T	NP_001173.2:p.Val214Phe
NM_001201377.1:c.556G>T	NP_001188306.1:p.Val186Phe
NM_001202404.1:c.721G>T	NP_001189333.1:p.Val241Phe
XM_011543417.1:c.235G>T	XP_011541719.1:p.Val79Phe
XM_011543417.2:c.235G>T	XP_011541719.1:p.Val79Phe
NM_001182.5:c.640G>T MANE Select	NP_001173.2:p.Val214Phe
NM_001201377.2:c.556G>T	NP_001188306.1:p.Val186Phe
NM_001202404.2:c.640G>T	NP_001189333.2:p.Val214Phe