Canonical Allele Identifier: CA360719465

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882078G>C (hg19) ; chr5:g.126546386G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546386G>C , CM000667.2:g.126546386G>C	GRCh38
NC_000005.9:g.125882078G>C , CM000667.1:g.125882078G>C	GRCh37
NC_000005.8:g.125909977G>C	NCBI36
NG_008600.2:g.54005C>G
NG_008600.3:g.54005C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1503C>G MANE Select	ENSP00000387123.3:p.His501Gln
ENST00000458249.6:c.*1412C>G	ENSP00000403929.1:n.*1412C>G
ENST00000485852.7:n.250C>G
ENST00000497231.7:n.1930C>G
ENST00000635851.1:c.1501C>G
ENST00000636225.1:c.*1447C>G	ENSP00000490797.1:n.*1447C>G
ENST00000636286.1:n.1268C>G
ENST00000636482.1:n.1037C>G
ENST00000636743.1:c.1383C>G	ENSP00000489725.1:p.His461Gln
ENST00000636808.1:c.*1312C>G	ENSP00000490833.1:n.*1312C>G
ENST00000636872.1:c.1663C>G	ENSP00000490919.1:n.1663C>G
ENST00000636879.1:c.1548C>G	ENSP00000490811.1:p.His516Gln
ENST00000636886.1:c.1302C>G	ENSP00000490371.1:p.His434Gln
ENST00000637206.1:c.1323C>G	ENSP00000489895.1:p.His441Gln
ENST00000637272.1:c.1494C>G	ENSP00000489686.1:p.His498Gln
ENST00000637292.1:c.959C>G
ENST00000637782.1:c.1503C>G	ENSP00000490024.1:p.His501Gln
ENST00000638008.1:c.*1347C>G	ENSP00000490400.1:n.*1347C>G
ENST00000638010.1:n.1449C>G
ENST00000409134.7:c.1503C>G	ENSP00000387123.3:p.His501Gln
ENST00000447989.6:c.1392C>G	ENSP00000414132.2:p.His464Gln
ENST00000485852.6:n.250C>G
ENST00000497231.6:n.1713C>G
ENST00000553117.5:c.1311C>G	ENSP00000448593.1:p.His437Gln
NM_001182.4:c.1503C>G	NP_001173.2:p.His501Gln
NM_001201377.1:c.1419C>G	NP_001188306.1:p.His473Gln
NM_001202404.1:c.1392C>G	NP_001189333.1:p.His464Gln
XM_011543417.1:c.1098C>G	XP_011541719.1:p.His366Gln
XM_011543417.2:c.1098C>G	XP_011541719.1:p.His366Gln
NM_001182.5:c.1503C>G MANE Select	NP_001173.2:p.His501Gln
NM_001201377.2:c.1419C>G	NP_001188306.1:p.His473Gln
NM_001202404.2:c.1311C>G	NP_001189333.2:p.His437Gln