Canonical Allele Identifier: CA360721825

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550267A>T , CM000667.2:g.126550267A>T	GRCh38
NC_000005.9:g.125885959A>T , CM000667.1:g.125885959A>T	GRCh37
NC_000005.8:g.125913858A>T	NCBI36
NG_008600.2:g.50124T>A
NG_008600.3:g.50124T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1344T>A MANE Select	NP_001173.2:p.Asn448Lys
ENST00000409134.8:c.1344T>A MANE Select	ENSP00000387123.3:p.Asn448Lys
NM_001182.4:c.1344T>A	NP_001173.2:p.Asn448Lys
NM_001201377.1:c.1260T>A	NP_001188306.1:p.Asn420Lys
NM_001201377.2:c.1260T>A	NP_001188306.1:p.Asn420Lys
NM_001202404.1:c.1233T>A	NP_001189333.1:p.Asn411Lys
NM_001202404.2:c.1152T>A	NP_001189333.2:p.Asn384Lys
ENST00000409134.7:c.1344T>A	ENSP00000387123.3:p.Asn448Lys
ENST00000447989.6:c.1233T>A	ENSP00000414132.2:p.Asn411Lys
ENST00000458249.6:c.*1253T>A	ENSP00000403929.1:n.*1253T>A
ENST00000476328.1:n.109T>A
ENST00000497231.6:n.1554T>A
ENST00000497231.7:n.1771T>A
ENST00000503281.6:c.933T>A
ENST00000553117.5:c.1152T>A	ENSP00000448593.1:p.Asn384Lys
ENST00000635851.1:c.1342T>A
ENST00000636062.1:n.1239T>A
ENST00000636225.1:c.*1288T>A	ENSP00000490797.1:n.*1288T>A
ENST00000636286.1:n.1062T>A
ENST00000636482.1:n.831T>A
ENST00000636743.1:c.1224T>A	ENSP00000489725.1:p.Asn408Lys
ENST00000636808.1:c.*1153T>A	ENSP00000490833.1:n.*1153T>A
ENST00000636872.1:c.1504T>A	ENSP00000490919.1:n.1504T>A
ENST00000636879.1:c.1389T>A	ENSP00000490811.1:p.Asn463Lys
ENST00000636886.1:c.1143T>A	ENSP00000490371.1:p.Asn381Lys
ENST00000637206.1:c.1164T>A	ENSP00000489895.1:p.Asn388Lys
ENST00000637272.1:c.1335T>A	ENSP00000489686.1:p.Asn445Lys
ENST00000637292.1:c.800T>A
ENST00000637782.1:c.1344T>A	ENSP00000490024.1:p.Asn448Lys
ENST00000638008.1:c.*1188T>A	ENSP00000490400.1:n.*1188T>A
ENST00000638010.1:n.1290T>A
XM_011543417.1:c.939T>A	XP_011541719.1:p.Asn313Lys
XM_011543417.2:c.939T>A	XP_011541719.1:p.Asn313Lys