Canonical Allele Identifier: CA360721594

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550238C>T , CM000667.2:g.126550238C>T	GRCh38
NC_000005.9:g.125885930C>T , CM000667.1:g.125885930C>T	GRCh37
NC_000005.8:g.125913829C>T	NCBI36
NG_008600.2:g.50153G>A
NG_008600.3:g.50153G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1373G>A MANE Select	NP_001173.2:p.Ser458Asn
ENST00000409134.8:c.1373G>A MANE Select	ENSP00000387123.3:p.Ser458Asn
NM_001182.4:c.1373G>A	NP_001173.2:p.Ser458Asn
NM_001201377.1:c.1289G>A	NP_001188306.1:p.Ser430Asn
NM_001201377.2:c.1289G>A	NP_001188306.1:p.Ser430Asn
NM_001202404.1:c.1262G>A	NP_001189333.1:p.Ser421Asn
NM_001202404.2:c.1181G>A	NP_001189333.2:p.Ser394Asn
ENST00000409134.7:c.1373G>A	ENSP00000387123.3:p.Ser458Asn
ENST00000447989.6:c.1262G>A	ENSP00000414132.2:p.Ser421Asn
ENST00000458249.6:c.*1282G>A	ENSP00000403929.1:n.*1282G>A
ENST00000476328.1:n.138G>A
ENST00000497231.6:n.1583G>A
ENST00000497231.7:n.1800G>A
ENST00000553117.5:c.1181G>A	ENSP00000448593.1:p.Ser394Asn
ENST00000635851.1:c.1371G>A
ENST00000636062.1:n.1268G>A
ENST00000636225.1:c.*1317G>A	ENSP00000490797.1:n.*1317G>A
ENST00000636286.1:n.1091G>A
ENST00000636482.1:n.860G>A
ENST00000636743.1:c.1253G>A	ENSP00000489725.1:p.Ser418Asn
ENST00000636808.1:c.*1182G>A	ENSP00000490833.1:n.*1182G>A
ENST00000636872.1:c.1533G>A	ENSP00000490919.1:n.1533G>A
ENST00000636879.1:c.1418G>A	ENSP00000490811.1:p.Ser473Asn
ENST00000636886.1:c.1172G>A	ENSP00000490371.1:p.Ser391Asn
ENST00000637206.1:c.1193G>A	ENSP00000489895.1:p.Ser398Asn
ENST00000637272.1:c.1364G>A	ENSP00000489686.1:p.Ser455Asn
ENST00000637292.1:c.829G>A
ENST00000637782.1:c.1373G>A	ENSP00000490024.1:p.Ser458Asn
ENST00000638008.1:c.*1217G>A	ENSP00000490400.1:n.*1217G>A
ENST00000638010.1:n.1319G>A
XM_011543417.1:c.968G>A	XP_011541719.1:p.Ser323Asn
XM_011543417.2:c.968G>A	XP_011541719.1:p.Ser323Asn