Canonical Allele Identifier: CA446280105

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125880672T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544980T>A , CM000667.2:g.126544980T>A	GRCh38
NC_000005.9:g.125880672T>A , CM000667.1:g.125880672T>A	GRCh37
NC_000005.8:g.125908571T>A	NCBI36
NG_008600.2:g.55411A>T
NG_008600.3:g.55411A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1605A>T MANE Select	ENSP00000387123.3:p.Gly535=
ENST00000458249.6:c.*1514A>T	ENSP00000403929.1:n.*1514A>T
ENST00000485852.7:n.352A>T
ENST00000497231.7:n.2032A>T
ENST00000635851.1:c.1563+1344A>T
ENST00000636286.1:n.1370A>T
ENST00000636482.1:n.1139A>T
ENST00000636743.1:c.1485A>T	ENSP00000489725.1:p.Gly495=
ENST00000636808.1:c.*1414A>T	ENSP00000490833.1:n.*1414A>T
ENST00000636872.1:c.1765A>T	ENSP00000490919.1:n.1765A>T
ENST00000636879.1:c.1650A>T	ENSP00000490811.1:p.Gly550=
ENST00000636886.1:c.1404A>T	ENSP00000490371.1:p.Gly468=
ENST00000637206.1:c.1425A>T	ENSP00000489895.1:p.Gly475=
ENST00000637272.1:c.1596A>T	ENSP00000489686.1:p.Gly532=
ENST00000637292.1:c.1061A>T
ENST00000637782.1:c.1565+1344A>T	ENSP00000490024.1:n.1565+1344A>T
ENST00000638008.1:c.*1449A>T	ENSP00000490400.1:n.*1449A>T
ENST00000638010.1:n.1551A>T
ENST00000409134.7:c.1605A>T	ENSP00000387123.3:p.Gly535=
ENST00000447989.6:c.1494A>T	ENSP00000414132.2:p.Gly498=
ENST00000485852.6:n.352A>T
ENST00000497231.6:n.1815A>T
ENST00000553117.5:c.1413A>T	ENSP00000448593.1:p.Gly471=
NM_001182.4:c.1605A>T	NP_001173.2:p.Gly535=
NM_001201377.1:c.1521A>T	NP_001188306.1:p.Gly507=
NM_001202404.1:c.1494A>T	NP_001189333.1:p.Gly498=
XM_011543417.1:c.1200A>T	XP_011541719.1:p.Gly400=
XM_011543417.2:c.1200A>T	XP_011541719.1:p.Gly400=
NM_001182.5:c.1605A>T MANE Select	NP_001173.2:p.Gly535=
NM_001201377.2:c.1521A>T	NP_001188306.1:p.Gly507=
NM_001202404.2:c.1413A>T	NP_001189333.2:p.Gly471=