Canonical Allele Identifier: CA360733202

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125928416A>C (hg19) ; chr5:g.126592724A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126592724A>C , CM000667.2:g.126592724A>C	GRCh38
NC_000005.9:g.125928416A>C , CM000667.1:g.125928416A>C	GRCh37
NC_000005.8:g.125956315A>C	NCBI36
NG_008600.2:g.7667T>G
NG_008600.3:g.7667T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.252T>G MANE Select	ENSP00000387123.3:p.Ser84Arg
ENST00000412186.2:c.252T>G	ENSP00000414536.2:p.Ser84Arg
ENST00000413020.6:c.252T>G	ENSP00000487936.1:p.Ser84Arg
ENST00000458249.6:c.*161T>G	ENSP00000403929.1:n.*161T>G
ENST00000479989.6:n.435T>G
ENST00000503281.6:c.106+2283T>G
ENST00000509270.2:c.246+627T>G	ENSP00000449318.2:n.246+627T>G
ENST00000509459.6:c.65+2283T>G
ENST00000511266.6:n.974T>G
ENST00000635851.1:c.250T>G
ENST00000635858.1:n.91T>G
ENST00000635933.1:n.281T>G
ENST00000636062.1:n.147T>G
ENST00000636190.1:n.131T>G
ENST00000636225.1:c.*61T>G	ENSP00000490797.1:n.*61T>G
ENST00000636743.1:c.192+2283T>G	ENSP00000489725.1:n.192+2283T>G
ENST00000636808.1:c.*61T>G	ENSP00000490833.1:n.*61T>G
ENST00000636872.1:c.412T>G	ENSP00000490919.1:n.412T>G
ENST00000636879.1:c.252T>G	ENSP00000490811.1:p.Ser84Arg
ENST00000636886.1:c.192+2283T>G	ENSP00000490371.1:n.192+2283T>G
ENST00000637206.1:c.252T>G	ENSP00000489895.1:p.Ser84Arg
ENST00000637272.1:c.252T>G	ENSP00000489686.1:p.Ser84Arg
ENST00000637782.1:c.252T>G	ENSP00000490024.1:p.Ser84Arg
ENST00000637964.1:c.198T>G	ENSP00000490291.1:p.Ser66Arg
ENST00000638008.1:c.*61T>G	ENSP00000490400.1:n.*61T>G
ENST00000409134.7:c.252T>G	ENSP00000387123.3:p.Ser84Arg
ENST00000412186.1:c.*61T>G	ENSP00000414536.1:n.*61T>G
ENST00000413020.5:c.252T>G	ENSP00000487936.1:p.Ser84Arg
ENST00000447989.6:c.333T>G	ENSP00000414132.2:p.Ser111Arg
ENST00000458249.5:c.412T>G	ENSP00000403929.1:n.412T>G
ENST00000479989.5:n.435T>G
ENST00000503281.5:c.106+2283T>G
ENST00000509270.1:c.192+2283T>G	ENSP00000449318.1:n.192+2283T>G
ENST00000509459.5:c.65+2283T>G
ENST00000510111.6:c.246T>G	ENSP00000447388.1:p.Ser82Arg
ENST00000511266.5:n.207T>G
ENST00000553117.5:c.252T>G	ENSP00000448593.1:p.Ser84Arg
NM_001182.4:c.252T>G	NP_001173.2:p.Ser84Arg
NM_001201377.1:c.168T>G	NP_001188306.1:p.Ser56Arg
NM_001202404.1:c.333T>G	NP_001189333.1:p.Ser111Arg
XM_011543417.1:c.-154T>G	XP_011541719.1:n.-154T>G
XM_011543417.2:c.-154T>G	XP_011541719.1:n.-154T>G
NM_001182.5:c.252T>G MANE Select	NP_001173.2:p.Ser84Arg
NM_001201377.2:c.168T>G	NP_001188306.1:p.Ser56Arg
NM_001202404.2:c.252T>G	NP_001189333.2:p.Ser84Arg