Canonical Allele Identifier: CA360719532

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882084T>A (hg19) ; chr5:g.126546392T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546392T>A , CM000667.2:g.126546392T>A	GRCh38
NC_000005.9:g.125882084T>A , CM000667.1:g.125882084T>A	GRCh37
NC_000005.8:g.125909983T>A	NCBI36
NG_008600.2:g.53999A>T
NG_008600.3:g.53999A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1497A>T MANE Select	ENSP00000387123.3:p.Glu499Asp
ENST00000458249.6:c.*1406A>T	ENSP00000403929.1:n.*1406A>T
ENST00000485852.7:n.244A>T
ENST00000497231.7:n.1924A>T
ENST00000635851.1:c.1495A>T
ENST00000636225.1:c.*1441A>T	ENSP00000490797.1:n.*1441A>T
ENST00000636286.1:n.1262A>T
ENST00000636482.1:n.1031A>T
ENST00000636743.1:c.1377A>T	ENSP00000489725.1:p.Glu459Asp
ENST00000636808.1:c.*1306A>T	ENSP00000490833.1:n.*1306A>T
ENST00000636872.1:c.1657A>T	ENSP00000490919.1:n.1657A>T
ENST00000636879.1:c.1542A>T	ENSP00000490811.1:p.Glu514Asp
ENST00000636886.1:c.1296A>T	ENSP00000490371.1:p.Glu432Asp
ENST00000637206.1:c.1317A>T	ENSP00000489895.1:p.Glu439Asp
ENST00000637272.1:c.1488A>T	ENSP00000489686.1:p.Glu496Asp
ENST00000637292.1:c.953A>T
ENST00000637782.1:c.1497A>T	ENSP00000490024.1:p.Glu499Asp
ENST00000638008.1:c.*1341A>T	ENSP00000490400.1:n.*1341A>T
ENST00000638010.1:n.1443A>T
ENST00000409134.7:c.1497A>T	ENSP00000387123.3:p.Glu499Asp
ENST00000447989.6:c.1386A>T	ENSP00000414132.2:p.Glu462Asp
ENST00000485852.6:n.244A>T
ENST00000497231.6:n.1707A>T
ENST00000553117.5:c.1305A>T	ENSP00000448593.1:p.Glu435Asp
NM_001182.4:c.1497A>T	NP_001173.2:p.Glu499Asp
NM_001201377.1:c.1413A>T	NP_001188306.1:p.Glu471Asp
NM_001202404.1:c.1386A>T	NP_001189333.1:p.Glu462Asp
XM_011543417.1:c.1092A>T	XP_011541719.1:p.Glu364Asp
XM_011543417.2:c.1092A>T	XP_011541719.1:p.Glu364Asp
NM_001182.5:c.1497A>T MANE Select	NP_001173.2:p.Glu499Asp
NM_001201377.2:c.1413A>T	NP_001188306.1:p.Glu471Asp
NM_001202404.2:c.1305A>T	NP_001189333.2:p.Glu435Asp