Canonical Allele Identifier: CA360719139

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546358C>T , CM000667.2:g.126546358C>T	GRCh38
NC_000005.9:g.125882050C>T , CM000667.1:g.125882050C>T	GRCh37
NC_000005.8:g.125909949C>T	NCBI36
NG_008600.2:g.54033G>A
NG_008600.3:g.54033G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1531G>A MANE Select	NP_001173.2:p.Asp511Asn
ENST00000409134.8:c.1531G>A MANE Select	ENSP00000387123.3:p.Asp511Asn
NM_001182.4:c.1531G>A	NP_001173.2:p.Asp511Asn
NM_001201377.1:c.1447G>A	NP_001188306.1:p.Asp483Asn
NM_001201377.2:c.1447G>A	NP_001188306.1:p.Asp483Asn
NM_001202404.1:c.1420G>A	NP_001189333.1:p.Asp474Asn
NM_001202404.2:c.1339G>A	NP_001189333.2:p.Asp447Asn
ENST00000409134.7:c.1531G>A	ENSP00000387123.3:p.Asp511Asn
ENST00000447989.6:c.1420G>A	ENSP00000414132.2:p.Asp474Asn
ENST00000458249.6:c.*1440G>A	ENSP00000403929.1:n.*1440G>A
ENST00000485852.6:n.278G>A
ENST00000485852.7:n.278G>A
ENST00000497231.6:n.1741G>A
ENST00000497231.7:n.1958G>A
ENST00000553117.5:c.1339G>A	ENSP00000448593.1:p.Asp447Asn
ENST00000635851.1:c.1529G>A
ENST00000636225.1:c.*1475G>A	ENSP00000490797.1:n.*1475G>A
ENST00000636286.1:n.1296G>A
ENST00000636482.1:n.1065G>A
ENST00000636743.1:c.1411G>A	ENSP00000489725.1:p.Asp471Asn
ENST00000636808.1:c.*1340G>A	ENSP00000490833.1:n.*1340G>A
ENST00000636872.1:c.1691G>A	ENSP00000490919.1:n.1691G>A
ENST00000636879.1:c.1576G>A	ENSP00000490811.1:p.Asp526Asn
ENST00000636886.1:c.1330G>A	ENSP00000490371.1:p.Asp444Asn
ENST00000637206.1:c.1351G>A	ENSP00000489895.1:p.Asp451Asn
ENST00000637272.1:c.1522G>A	ENSP00000489686.1:p.Asp508Asn
ENST00000637292.1:c.987G>A
ENST00000637782.1:c.1531G>A	ENSP00000490024.1:p.Asp511Asn
ENST00000638008.1:c.*1375G>A	ENSP00000490400.1:n.*1375G>A
ENST00000638010.1:n.1477G>A
XM_011543417.1:c.1126G>A	XP_011541719.1:p.Asp376Asn
XM_011543417.2:c.1126G>A	XP_011541719.1:p.Asp376Asn