Canonical Allele Identifier: CA360722642

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887718A>C (hg19) ; chr5:g.126552026A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552026A>C , CM000667.2:g.126552026A>C	GRCh38
NC_000005.9:g.125887718A>C , CM000667.1:g.125887718A>C	GRCh37
NC_000005.8:g.125915617A>C	NCBI36
NG_008600.2:g.48365T>G
NG_008600.3:g.48365T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1312T>G MANE Select	ENSP00000387123.3:p.Phe438Val
ENST00000458249.6:c.*1221T>G	ENSP00000403929.1:n.*1221T>G
ENST00000497231.7:n.1739T>G
ENST00000503281.6:c.901T>G
ENST00000635851.1:c.1310T>G
ENST00000636062.1:n.1207T>G
ENST00000636225.1:c.*1256T>G	ENSP00000490797.1:n.*1256T>G
ENST00000636286.1:n.1030T>G
ENST00000636482.1:n.799T>G
ENST00000636743.1:c.1192T>G	ENSP00000489725.1:p.Phe398Val
ENST00000636808.1:c.*1121T>G	ENSP00000490833.1:n.*1121T>G
ENST00000636872.1:c.1472T>G	ENSP00000490919.1:n.1472T>G
ENST00000636879.1:c.1357T>G	ENSP00000490811.1:p.Phe453Val
ENST00000636886.1:c.1111T>G	ENSP00000490371.1:p.Phe371Val
ENST00000637206.1:c.1132T>G	ENSP00000489895.1:p.Phe378Val
ENST00000637272.1:c.1303T>G	ENSP00000489686.1:p.Phe435Val
ENST00000637292.1:c.774-1733T>G
ENST00000637782.1:c.1312T>G	ENSP00000490024.1:p.Phe438Val
ENST00000638008.1:c.*1156T>G	ENSP00000490400.1:n.*1156T>G
ENST00000638010.1:n.1258T>G
ENST00000409134.7:c.1312T>G	ENSP00000387123.3:p.Phe438Val
ENST00000447989.6:c.1201T>G	ENSP00000414132.2:p.Phe401Val
ENST00000476328.1:n.77T>G
ENST00000497231.6:n.1522T>G
ENST00000503281.5:c.901T>G
ENST00000553117.5:c.1120T>G	ENSP00000448593.1:p.Phe374Val
NM_001182.4:c.1312T>G	NP_001173.2:p.Phe438Val
NM_001201377.1:c.1228T>G	NP_001188306.1:p.Phe410Val
NM_001202404.1:c.1201T>G	NP_001189333.1:p.Phe401Val
XM_011543417.1:c.907T>G	XP_011541719.1:p.Phe303Val
XM_011543417.2:c.907T>G	XP_011541719.1:p.Phe303Val
NM_001182.5:c.1312T>G MANE Select	NP_001173.2:p.Phe438Val
NM_001201377.2:c.1228T>G	NP_001188306.1:p.Phe410Val
NM_001202404.2:c.1120T>G	NP_001189333.2:p.Phe374Val