Canonical Allele Identifier: CA360726609

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559256G>T , CM000667.2:g.126559256G>T	GRCh38
NC_000005.9:g.125894948G>T , CM000667.1:g.125894948G>T	GRCh37
NC_000005.8:g.125922847G>T	NCBI36
NG_008600.2:g.41135C>A
NG_008600.3:g.41135C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.992C>A MANE Select	NP_001173.2:p.Thr331Asn
ENST00000409134.8:c.992C>A MANE Select	ENSP00000387123.3:p.Thr331Asn
NM_001182.4:c.992C>A	NP_001173.2:p.Thr331Asn
NM_001201377.1:c.908C>A	NP_001188306.1:p.Thr303Asn
NM_001201377.2:c.908C>A	NP_001188306.1:p.Thr303Asn
NM_001202404.1:c.1073C>A	NP_001189333.1:p.Thr358Asn
NM_001202404.2:c.992C>A	NP_001189333.2:p.Thr331Asn
ENST00000409134.7:c.992C>A	ENSP00000387123.3:p.Thr331Asn
ENST00000447989.6:c.1073C>A	ENSP00000414132.2:p.Thr358Asn
ENST00000458249.6:c.*901C>A	ENSP00000403929.1:n.*901C>A
ENST00000497231.6:n.1202C>A
ENST00000497231.7:n.1419C>A
ENST00000503281.5:c.581C>A
ENST00000503281.6:c.581C>A
ENST00000509459.5:c.501C>A
ENST00000509459.6:c.501C>A
ENST00000553117.5:c.992C>A	ENSP00000448593.1:p.Thr331Asn
ENST00000635851.1:c.990C>A
ENST00000636062.1:n.887C>A
ENST00000636225.1:c.*936C>A	ENSP00000490797.1:n.*936C>A
ENST00000636286.1:n.710C>A
ENST00000636482.1:n.479C>A
ENST00000636743.1:c.872C>A	ENSP00000489725.1:p.Thr291Asn
ENST00000636808.1:c.*801C>A	ENSP00000490833.1:n.*801C>A
ENST00000636872.1:c.1152C>A	ENSP00000490919.1:n.1152C>A
ENST00000636879.1:c.1037C>A	ENSP00000490811.1:p.Thr346Asn
ENST00000636886.1:c.791C>A	ENSP00000490371.1:p.Thr264Asn
ENST00000637206.1:c.913+1827C>A	ENSP00000489895.1:n.913+1827C>A
ENST00000637272.1:c.983C>A	ENSP00000489686.1:p.Thr328Asn
ENST00000637292.1:c.565C>A
ENST00000637782.1:c.992C>A	ENSP00000490024.1:p.Thr331Asn
ENST00000637964.1:c.938C>A	ENSP00000490291.1:p.Thr313Asn
ENST00000638008.1:c.*836C>A	ENSP00000490400.1:n.*836C>A
XM_011543417.1:c.587C>A	XP_011541719.1:p.Thr196Asn
XM_011543417.2:c.587C>A	XP_011541719.1:p.Thr196Asn