Canonical Allele Identifier: CA360723008

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887751C>T (hg19) ; chr5:g.126552059C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552059C>T , CM000667.2:g.126552059C>T	GRCh38
NC_000005.9:g.125887751C>T , CM000667.1:g.125887751C>T	GRCh37
NC_000005.8:g.125915650C>T	NCBI36
NG_008600.2:g.48332G>A
NG_008600.3:g.48332G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1279G>A MANE Select	ENSP00000387123.3:p.Glu427Lys
ENST00000458249.6:c.*1188G>A	ENSP00000403929.1:n.*1188G>A
ENST00000497231.7:n.1706G>A
ENST00000503281.6:c.868G>A
ENST00000635851.1:c.1277G>A
ENST00000636062.1:n.1174G>A
ENST00000636225.1:c.*1223G>A	ENSP00000490797.1:n.*1223G>A
ENST00000636286.1:n.997G>A
ENST00000636482.1:n.766G>A
ENST00000636743.1:c.1159G>A	ENSP00000489725.1:p.Glu387Lys
ENST00000636808.1:c.*1088G>A	ENSP00000490833.1:n.*1088G>A
ENST00000636872.1:c.1439G>A	ENSP00000490919.1:n.1439G>A
ENST00000636879.1:c.1324G>A	ENSP00000490811.1:p.Glu442Lys
ENST00000636886.1:c.1078G>A	ENSP00000490371.1:p.Glu360Lys
ENST00000637206.1:c.1099G>A	ENSP00000489895.1:p.Glu367Lys
ENST00000637272.1:c.1270G>A	ENSP00000489686.1:p.Glu424Lys
ENST00000637292.1:c.774-1766G>A
ENST00000637782.1:c.1279G>A	ENSP00000490024.1:p.Glu427Lys
ENST00000638008.1:c.*1123G>A	ENSP00000490400.1:n.*1123G>A
ENST00000638010.1:n.1225G>A
ENST00000409134.7:c.1279G>A	ENSP00000387123.3:p.Glu427Lys
ENST00000447989.6:c.1168G>A	ENSP00000414132.2:p.Glu390Lys
ENST00000476328.1:n.44G>A
ENST00000497231.6:n.1489G>A
ENST00000503281.5:c.868G>A
ENST00000553117.5:c.1087G>A	ENSP00000448593.1:p.Glu363Lys
NM_001182.4:c.1279G>A	NP_001173.2:p.Glu427Lys
NM_001201377.1:c.1195G>A	NP_001188306.1:p.Glu399Lys
NM_001202404.1:c.1168G>A	NP_001189333.1:p.Glu390Lys
XM_011543417.1:c.874G>A	XP_011541719.1:p.Glu292Lys
XM_011543417.2:c.874G>A	XP_011541719.1:p.Glu292Lys
NM_001182.5:c.1279G>A MANE Select	NP_001173.2:p.Glu427Lys
NM_001201377.2:c.1195G>A	NP_001188306.1:p.Glu399Lys
NM_001202404.2:c.1087G>A	NP_001189333.2:p.Glu363Lys