Canonical Allele Identifier: CA360727059

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126561125C>A , CM000667.2:g.126561125C>A	GRCh38
NC_000005.9:g.125896817C>A , CM000667.1:g.125896817C>A	GRCh37
NC_000005.8:g.125924716C>A	NCBI36
NG_008600.2:g.39266G>T
NG_008600.3:g.39266G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.872-1G>T MANE Select	NP_001173.2:n.872-1G>T
ENST00000409134.8:c.872-1G>T MANE Select	ENSP00000387123.3:n.872-1G>T
NM_001182.4:c.872-1G>T	NP_001173.2:n.872-1G>T
NM_001201377.1:c.788-1G>T	NP_001188306.1:n.788-1G>T
NM_001201377.2:c.788-1G>T	NP_001188306.1:n.788-1G>T
NM_001202404.1:c.953-1G>T	NP_001189333.1:n.953-1G>T
NM_001202404.2:c.872-1G>T	NP_001189333.2:n.872-1G>T
ENST00000409134.7:c.872-1G>T	ENSP00000387123.3:n.872-1G>T
ENST00000447989.6:c.953-1G>T	ENSP00000414132.2:n.953-1G>T
ENST00000458249.6:c.*781-1G>T	ENSP00000403929.1:n.*781-1G>T
ENST00000497231.6:n.1081G>T
ENST00000497231.7:n.1298G>T
ENST00000503281.5:c.461-1G>T
ENST00000503281.6:c.461-1G>T
ENST00000509459.5:c.420-1G>T
ENST00000509459.6:c.420-1G>T
ENST00000553117.5:c.872-1G>T	ENSP00000448593.1:n.872-1G>T
ENST00000635851.1:c.870-1G>T
ENST00000636062.1:n.767-1G>T
ENST00000636225.1:c.*816-1G>T	ENSP00000490797.1:n.*816-1G>T
ENST00000636286.1:n.590-1G>T
ENST00000636482.1:n.358G>T
ENST00000636743.1:c.752-1G>T	ENSP00000489725.1:n.752-1G>T
ENST00000636808.1:c.*681-1G>T	ENSP00000490833.1:n.*681-1G>T
ENST00000636872.1:c.1032-1G>T	ENSP00000490919.1:n.1032-1G>T
ENST00000636879.1:c.917-1G>T	ENSP00000490811.1:n.917-1G>T
ENST00000636886.1:c.671-1G>T	ENSP00000490371.1:n.671-1G>T
ENST00000637206.1:c.872-1G>T	ENSP00000489895.1:n.872-1G>T
ENST00000637272.1:c.872-1G>T	ENSP00000489686.1:n.872-1G>T
ENST00000637292.1:c.427-1G>T
ENST00000637782.1:c.872-1G>T	ENSP00000490024.1:n.872-1G>T
ENST00000637964.1:c.818-1G>T	ENSP00000490291.1:n.818-1G>T
ENST00000638008.1:c.*716-1G>T	ENSP00000490400.1:n.*716-1G>T
XM_011543417.1:c.467-1G>T	XP_011541719.1:n.467-1G>T
XM_011543417.2:c.467-1G>T	XP_011541719.1:n.467-1G>T