Canonical Allele Identifier: CA360726862

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559336T>G , CM000667.2:g.126559336T>G	GRCh38
NC_000005.9:g.125895028T>G , CM000667.1:g.125895028T>G	GRCh37
NC_000005.8:g.125922927T>G	NCBI36
NG_008600.2:g.41055A>C
NG_008600.3:g.41055A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.914-2A>C MANE Select	NP_001173.2:n.914-2A>C
ENST00000409134.8:c.914-2A>C MANE Select	ENSP00000387123.3:n.914-2A>C
NM_001182.4:c.914-2A>C	NP_001173.2:n.914-2A>C
NM_001201377.1:c.830-2A>C	NP_001188306.1:n.830-2A>C
NM_001201377.2:c.830-2A>C	NP_001188306.1:n.830-2A>C
NM_001202404.1:c.995-2A>C	NP_001189333.1:n.995-2A>C
NM_001202404.2:c.914-2A>C	NP_001189333.2:n.914-2A>C
ENST00000409134.7:c.914-2A>C	ENSP00000387123.3:n.914-2A>C
ENST00000447989.6:c.995-2A>C	ENSP00000414132.2:n.995-2A>C
ENST00000458249.6:c.*823-2A>C	ENSP00000403929.1:n.*823-2A>C
ENST00000497231.6:n.1124-2A>C
ENST00000497231.7:n.1341-2A>C
ENST00000503281.5:c.503-2A>C
ENST00000503281.6:c.503-2A>C
ENST00000509459.5:c.462-41A>C
ENST00000509459.6:c.462-41A>C
ENST00000553117.5:c.914-2A>C	ENSP00000448593.1:n.914-2A>C
ENST00000635851.1:c.912-2A>C
ENST00000636062.1:n.809-2A>C
ENST00000636225.1:c.*858-2A>C	ENSP00000490797.1:n.*858-2A>C
ENST00000636286.1:n.632-2A>C
ENST00000636482.1:n.401-2A>C
ENST00000636743.1:c.794-2A>C	ENSP00000489725.1:n.794-2A>C
ENST00000636808.1:c.*723-2A>C	ENSP00000490833.1:n.*723-2A>C
ENST00000636872.1:c.1074-2A>C	ENSP00000490919.1:n.1074-2A>C
ENST00000636879.1:c.959-2A>C	ENSP00000490811.1:n.959-2A>C
ENST00000636886.1:c.713-2A>C	ENSP00000490371.1:n.713-2A>C
ENST00000637206.1:c.913+1747A>C	ENSP00000489895.1:n.913+1747A>C
ENST00000637272.1:c.914-11A>C	ENSP00000489686.1:n.914-11A>C
ENST00000637292.1:c.485A>C
ENST00000637782.1:c.914-2A>C	ENSP00000490024.1:n.914-2A>C
ENST00000637964.1:c.860-2A>C	ENSP00000490291.1:n.860-2A>C
ENST00000638008.1:c.*758-2A>C	ENSP00000490400.1:n.*758-2A>C
XM_011543417.1:c.509-2A>C	XP_011541719.1:n.509-2A>C
XM_011543417.2:c.509-2A>C	XP_011541719.1:n.509-2A>C