Canonical Allele Identifier: CA360722661

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887720T>C (hg19) ; chr5:g.126552028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552028T>C , CM000667.2:g.126552028T>C	GRCh38
NC_000005.9:g.125887720T>C , CM000667.1:g.125887720T>C	GRCh37
NC_000005.8:g.125915619T>C	NCBI36
NG_008600.2:g.48363A>G
NG_008600.3:g.48363A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1310A>G MANE Select	ENSP00000387123.3:p.Lys437Arg
ENST00000458249.6:c.*1219A>G	ENSP00000403929.1:n.*1219A>G
ENST00000497231.7:n.1737A>G
ENST00000503281.6:c.899A>G
ENST00000635851.1:c.1308A>G
ENST00000636062.1:n.1205A>G
ENST00000636225.1:c.*1254A>G	ENSP00000490797.1:n.*1254A>G
ENST00000636286.1:n.1028A>G
ENST00000636482.1:n.797A>G
ENST00000636743.1:c.1190A>G	ENSP00000489725.1:p.Lys397Arg
ENST00000636808.1:c.*1119A>G	ENSP00000490833.1:n.*1119A>G
ENST00000636872.1:c.1470A>G	ENSP00000490919.1:n.1470A>G
ENST00000636879.1:c.1355A>G	ENSP00000490811.1:p.Lys452Arg
ENST00000636886.1:c.1109A>G	ENSP00000490371.1:p.Lys370Arg
ENST00000637206.1:c.1130A>G	ENSP00000489895.1:p.Lys377Arg
ENST00000637272.1:c.1301A>G	ENSP00000489686.1:p.Lys434Arg
ENST00000637292.1:c.774-1735A>G
ENST00000637782.1:c.1310A>G	ENSP00000490024.1:p.Lys437Arg
ENST00000638008.1:c.*1154A>G	ENSP00000490400.1:n.*1154A>G
ENST00000638010.1:n.1256A>G
ENST00000409134.7:c.1310A>G	ENSP00000387123.3:p.Lys437Arg
ENST00000447989.6:c.1199A>G	ENSP00000414132.2:p.Lys400Arg
ENST00000476328.1:n.75A>G
ENST00000497231.6:n.1520A>G
ENST00000503281.5:c.899A>G
ENST00000553117.5:c.1118A>G	ENSP00000448593.1:p.Lys373Arg
NM_001182.4:c.1310A>G	NP_001173.2:p.Lys437Arg
NM_001201377.1:c.1226A>G	NP_001188306.1:p.Lys409Arg
NM_001202404.1:c.1199A>G	NP_001189333.1:p.Lys400Arg
XM_011543417.1:c.905A>G	XP_011541719.1:p.Lys302Arg
XM_011543417.2:c.905A>G	XP_011541719.1:p.Lys302Arg
NM_001182.5:c.1310A>G MANE Select	NP_001173.2:p.Lys437Arg
NM_001201377.2:c.1226A>G	NP_001188306.1:p.Lys409Arg
NM_001202404.2:c.1118A>G	NP_001189333.2:p.Lys373Arg