Canonical Allele Identifier: CA360719341

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882065T>C (hg19) ; chr5:g.126546373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546373T>C , CM000667.2:g.126546373T>C	GRCh38
NC_000005.9:g.125882065T>C , CM000667.1:g.125882065T>C	GRCh37
NC_000005.8:g.125909964T>C	NCBI36
NG_008600.2:g.54018A>G
NG_008600.3:g.54018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1516A>G MANE Select	ENSP00000387123.3:p.Arg506Gly
ENST00000458249.6:c.*1425A>G	ENSP00000403929.1:n.*1425A>G
ENST00000485852.7:n.263A>G
ENST00000497231.7:n.1943A>G
ENST00000635851.1:c.1514A>G
ENST00000636225.1:c.*1460A>G	ENSP00000490797.1:n.*1460A>G
ENST00000636286.1:n.1281A>G
ENST00000636482.1:n.1050A>G
ENST00000636743.1:c.1396A>G	ENSP00000489725.1:p.Arg466Gly
ENST00000636808.1:c.*1325A>G	ENSP00000490833.1:n.*1325A>G
ENST00000636872.1:c.1676A>G	ENSP00000490919.1:n.1676A>G
ENST00000636879.1:c.1561A>G	ENSP00000490811.1:p.Arg521Gly
ENST00000636886.1:c.1315A>G	ENSP00000490371.1:p.Arg439Gly
ENST00000637206.1:c.1336A>G	ENSP00000489895.1:p.Arg446Gly
ENST00000637272.1:c.1507A>G	ENSP00000489686.1:p.Arg503Gly
ENST00000637292.1:c.972A>G
ENST00000637782.1:c.1516A>G	ENSP00000490024.1:p.Arg506Gly
ENST00000638008.1:c.*1360A>G	ENSP00000490400.1:n.*1360A>G
ENST00000638010.1:n.1462A>G
ENST00000409134.7:c.1516A>G	ENSP00000387123.3:p.Arg506Gly
ENST00000447989.6:c.1405A>G	ENSP00000414132.2:p.Arg469Gly
ENST00000485852.6:n.263A>G
ENST00000497231.6:n.1726A>G
ENST00000553117.5:c.1324A>G	ENSP00000448593.1:p.Arg442Gly
NM_001182.4:c.1516A>G	NP_001173.2:p.Arg506Gly
NM_001201377.1:c.1432A>G	NP_001188306.1:p.Arg478Gly
NM_001202404.1:c.1405A>G	NP_001189333.1:p.Arg469Gly
XM_011543417.1:c.1111A>G	XP_011541719.1:p.Arg371Gly
XM_011543417.2:c.1111A>G	XP_011541719.1:p.Arg371Gly
NM_001182.5:c.1516A>G MANE Select	NP_001173.2:p.Arg506Gly
NM_001201377.2:c.1432A>G	NP_001188306.1:p.Arg478Gly
NM_001202404.2:c.1324A>G	NP_001189333.2:p.Arg442Gly