Canonical Allele Identifier: CA3389700

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126575469A>G , CM000667.2:g.126575469A>G	GRCh38
NC_000005.9:g.125911161A>G , CM000667.1:g.125911161A>G	GRCh37
NC_000005.8:g.125939060A>G	NCBI36
NG_008600.2:g.24922T>C
NG_008600.3:g.24922T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.651-5T>C MANE Select	NP_001173.2:n.651-5T>C
ENST00000409134.8:c.651-5T>C MANE Select	ENSP00000387123.3:n.651-5T>C
NM_001182.4:c.651-5T>C	NP_001173.2:n.651-5T>C
NM_001201377.1:c.567-5T>C	NP_001188306.1:n.567-5T>C
NM_001201377.2:c.567-5T>C	NP_001188306.1:n.567-5T>C
NM_001202404.1:c.732-5T>C	NP_001189333.1:n.732-5T>C
NM_001202404.2:c.651-5T>C	NP_001189333.2:n.651-5T>C
ENST00000409134.7:c.651-5T>C	ENSP00000387123.3:n.651-5T>C
ENST00000412186.2:c.527-5T>C	ENSP00000414536.2:n.527-5T>C
ENST00000413020.5:c.651-5T>C	ENSP00000487936.1:n.651-5T>C
ENST00000413020.6:c.651-5T>C	ENSP00000487936.1:n.651-5T>C
ENST00000433026.5:n.178-5T>C
ENST00000447989.6:c.732-5T>C	ENSP00000414132.2:n.732-5T>C
ENST00000458249.5:c.811-5T>C	ENSP00000403929.1:n.811-5T>C
ENST00000458249.6:c.*560-5T>C	ENSP00000403929.1:n.*560-5T>C
ENST00000503281.5:c.240-5T>C
ENST00000503281.6:c.240-5T>C
ENST00000509459.5:c.199-5T>C
ENST00000509459.6:c.199-5T>C
ENST00000510111.6:c.564-5T>C	ENSP00000447388.1:n.564-5T>C
ENST00000511266.5:n.482-5T>C
ENST00000511266.6:n.1373-5T>C
ENST00000553117.5:c.651-5T>C	ENSP00000448593.1:n.651-5T>C
ENST00000635851.1:c.649-5T>C
ENST00000636062.1:n.546-5T>C
ENST00000636225.1:c.*460-5T>C	ENSP00000490797.1:n.*460-5T>C
ENST00000636286.1:n.369-5T>C
ENST00000636743.1:c.531-5T>C	ENSP00000489725.1:n.531-5T>C
ENST00000636808.1:c.*460-5T>C	ENSP00000490833.1:n.*460-5T>C
ENST00000636872.1:c.811-5T>C	ENSP00000490919.1:n.811-5T>C
ENST00000636879.1:c.696-5T>C	ENSP00000490811.1:n.696-5T>C
ENST00000636886.1:c.450-5T>C	ENSP00000490371.1:n.450-5T>C
ENST00000637206.1:c.651-5T>C	ENSP00000489895.1:n.651-5T>C
ENST00000637272.1:c.651-5T>C	ENSP00000489686.1:n.651-5T>C
ENST00000637292.1:c.304-5T>C
ENST00000637782.1:c.651-5T>C	ENSP00000490024.1:n.651-5T>C
ENST00000637964.1:c.597-5T>C	ENSP00000490291.1:n.597-5T>C
ENST00000638008.1:c.*593-5T>C	ENSP00000490400.1:n.*593-5T>C
XM_011543417.1:c.246-5T>C	XP_011541719.1:n.246-5T>C
XM_011543417.2:c.246-5T>C	XP_011541719.1:n.246-5T>C