Canonical Allele Identifier: CA3389740

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577212C>G , CM000667.2:g.126577212C>G	GRCh38
NC_000005.9:g.125912904C>G , CM000667.1:g.125912904C>G	GRCh37
NC_000005.8:g.125940803C>G	NCBI36
NG_008600.2:g.23179G>C
NG_008600.3:g.23179G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.518-1G>C MANE Select	NP_001173.2:n.518-1G>C
ENST00000409134.8:c.518-1G>C MANE Select	ENSP00000387123.3:n.518-1G>C
NM_001182.4:c.518-1G>C	NP_001173.2:n.518-1G>C
NM_001201377.1:c.434-1G>C	NP_001188306.1:n.434-1G>C
NM_001201377.2:c.434-1G>C	NP_001188306.1:n.434-1G>C
NM_001202404.1:c.599-1G>C	NP_001189333.1:n.599-1G>C
NM_001202404.2:c.518-1G>C	NP_001189333.2:n.518-1G>C
ENST00000409134.7:c.518-1G>C	ENSP00000387123.3:n.518-1G>C
ENST00000412186.2:c.394-1G>C	ENSP00000414536.2:n.394-1G>C
ENST00000413020.5:c.518-1G>C	ENSP00000487936.1:n.518-1G>C
ENST00000413020.6:c.518-1G>C	ENSP00000487936.1:n.518-1G>C
ENST00000433026.5:n.45-1G>C
ENST00000447989.6:c.599-1G>C	ENSP00000414132.2:n.599-1G>C
ENST00000458249.5:c.678-1G>C	ENSP00000403929.1:n.678-1G>C
ENST00000458249.6:c.*427-1G>C	ENSP00000403929.1:n.*427-1G>C
ENST00000503281.5:c.107-1G>C
ENST00000503281.6:c.107-1G>C
ENST00000509270.1:c.398-1G>C	ENSP00000449318.1:n.398-1G>C
ENST00000509270.2:c.452-1G>C	ENSP00000449318.2:n.452-1G>C
ENST00000509459.5:c.66-1G>C
ENST00000509459.6:c.66-1G>C
ENST00000510111.6:c.431-1G>C	ENSP00000447388.1:n.431-1G>C
ENST00000511266.5:n.349-1G>C
ENST00000511266.6:n.1240-1G>C
ENST00000553117.5:c.518-1G>C	ENSP00000448593.1:n.518-1G>C
ENST00000635851.1:c.516-1G>C
ENST00000636062.1:n.413-1G>C
ENST00000636225.1:c.*327-1G>C	ENSP00000490797.1:n.*327-1G>C
ENST00000636286.1:n.236-1G>C
ENST00000636743.1:c.398-1G>C	ENSP00000489725.1:n.398-1G>C
ENST00000636808.1:c.*327-1G>C	ENSP00000490833.1:n.*327-1G>C
ENST00000636872.1:c.678-1G>C	ENSP00000490919.1:n.678-1G>C
ENST00000636879.1:c.563-1G>C	ENSP00000490811.1:n.563-1G>C
ENST00000636886.1:c.317-1G>C	ENSP00000490371.1:n.317-1G>C
ENST00000637206.1:c.518-1G>C	ENSP00000489895.1:n.518-1G>C
ENST00000637272.1:c.518-1G>C	ENSP00000489686.1:n.518-1G>C
ENST00000637292.1:c.171-1G>C
ENST00000637782.1:c.518-1G>C	ENSP00000490024.1:n.518-1G>C
ENST00000637964.1:c.464-1G>C	ENSP00000490291.1:n.464-1G>C
ENST00000638008.1:c.*460-1G>C	ENSP00000490400.1:n.*460-1G>C
XM_011543417.1:c.113-1G>C	XP_011541719.1:n.113-1G>C
XM_011543417.2:c.113-1G>C	XP_011541719.1:n.113-1G>C