Canonical Allele Identifier: CA360722995

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125887750T>G (hg19) ; chr5:g.126552058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552058T>G , CM000667.2:g.126552058T>G	GRCh38
NC_000005.9:g.125887750T>G , CM000667.1:g.125887750T>G	GRCh37
NC_000005.8:g.125915649T>G	NCBI36
NG_008600.2:g.48333A>C
NG_008600.3:g.48333A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1280A>C MANE Select	ENSP00000387123.3:p.Glu427Ala
ENST00000458249.6:c.*1189A>C	ENSP00000403929.1:n.*1189A>C
ENST00000497231.7:n.1707A>C
ENST00000503281.6:c.869A>C
ENST00000635851.1:c.1278A>C
ENST00000636062.1:n.1175A>C
ENST00000636225.1:c.*1224A>C	ENSP00000490797.1:n.*1224A>C
ENST00000636286.1:n.998A>C
ENST00000636482.1:n.767A>C
ENST00000636743.1:c.1160A>C	ENSP00000489725.1:p.Glu387Ala
ENST00000636808.1:c.*1089A>C	ENSP00000490833.1:n.*1089A>C
ENST00000636872.1:c.1440A>C	ENSP00000490919.1:n.1440A>C
ENST00000636879.1:c.1325A>C	ENSP00000490811.1:p.Glu442Ala
ENST00000636886.1:c.1079A>C	ENSP00000490371.1:p.Glu360Ala
ENST00000637206.1:c.1100A>C	ENSP00000489895.1:p.Glu367Ala
ENST00000637272.1:c.1271A>C	ENSP00000489686.1:p.Glu424Ala
ENST00000637292.1:c.774-1765A>C
ENST00000637782.1:c.1280A>C	ENSP00000490024.1:p.Glu427Ala
ENST00000638008.1:c.*1124A>C	ENSP00000490400.1:n.*1124A>C
ENST00000638010.1:n.1226A>C
ENST00000409134.7:c.1280A>C	ENSP00000387123.3:p.Glu427Ala
ENST00000447989.6:c.1169A>C	ENSP00000414132.2:p.Glu390Ala
ENST00000476328.1:n.45A>C
ENST00000497231.6:n.1490A>C
ENST00000503281.5:c.869A>C
ENST00000553117.5:c.1088A>C	ENSP00000448593.1:p.Glu363Ala
NM_001182.4:c.1280A>C	NP_001173.2:p.Glu427Ala
NM_001201377.1:c.1196A>C	NP_001188306.1:p.Glu399Ala
NM_001202404.1:c.1169A>C	NP_001189333.1:p.Glu390Ala
XM_011543417.1:c.875A>C	XP_011541719.1:p.Glu292Ala
XM_011543417.2:c.875A>C	XP_011541719.1:p.Glu292Ala
NM_001182.5:c.1280A>C MANE Select	NP_001173.2:p.Glu427Ala
NM_001201377.2:c.1196A>C	NP_001188306.1:p.Glu399Ala
NM_001202404.2:c.1088A>C	NP_001189333.2:p.Glu363Ala