Canonical Allele Identifier: CA360721978

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126550294C>G , CM000667.2:g.126550294C>G	GRCh38
NC_000005.9:g.125885986C>G , CM000667.1:g.125885986C>G	GRCh37
NC_000005.8:g.125913885C>G	NCBI36
NG_008600.2:g.50097G>C
NG_008600.3:g.50097G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1318-1G>C MANE Select	NP_001173.2:n.1318-1G>C
ENST00000409134.8:c.1318-1G>C MANE Select	ENSP00000387123.3:n.1318-1G>C
NM_001182.4:c.1318-1G>C	NP_001173.2:n.1318-1G>C
NM_001201377.1:c.1234-1G>C	NP_001188306.1:n.1234-1G>C
NM_001201377.2:c.1234-1G>C	NP_001188306.1:n.1234-1G>C
NM_001202404.1:c.1207-1G>C	NP_001189333.1:n.1207-1G>C
NM_001202404.2:c.1126-1G>C	NP_001189333.2:n.1126-1G>C
ENST00000409134.7:c.1318-1G>C	ENSP00000387123.3:n.1318-1G>C
ENST00000447989.6:c.1207-1G>C	ENSP00000414132.2:n.1207-1G>C
ENST00000458249.6:c.*1227-1G>C	ENSP00000403929.1:n.*1227-1G>C
ENST00000476328.1:n.83-1G>C
ENST00000497231.6:n.1528-1G>C
ENST00000497231.7:n.1745-1G>C
ENST00000503281.6:c.907-1G>C
ENST00000553117.5:c.1126-1G>C	ENSP00000448593.1:n.1126-1G>C
ENST00000635851.1:c.1316-1G>C
ENST00000636062.1:n.1213-1G>C
ENST00000636225.1:c.*1262-1G>C	ENSP00000490797.1:n.*1262-1G>C
ENST00000636286.1:n.1036-1G>C
ENST00000636482.1:n.805-1G>C
ENST00000636743.1:c.1198-1G>C	ENSP00000489725.1:n.1198-1G>C
ENST00000636808.1:c.*1127-1G>C	ENSP00000490833.1:n.*1127-1G>C
ENST00000636872.1:c.1478-1G>C	ENSP00000490919.1:n.1478-1G>C
ENST00000636879.1:c.1363-1G>C	ENSP00000490811.1:n.1363-1G>C
ENST00000636886.1:c.1117-1G>C	ENSP00000490371.1:n.1117-1G>C
ENST00000637206.1:c.1138-1G>C	ENSP00000489895.1:n.1138-1G>C
ENST00000637272.1:c.1309-1G>C	ENSP00000489686.1:n.1309-1G>C
ENST00000637292.1:c.774-1G>C
ENST00000637782.1:c.1318-1G>C	ENSP00000490024.1:n.1318-1G>C
ENST00000638008.1:c.*1162-1G>C	ENSP00000490400.1:n.*1162-1G>C
ENST00000638010.1:n.1264-1G>C
XM_011543417.1:c.913-1G>C	XP_011541719.1:n.913-1G>C
XM_011543417.2:c.913-1G>C	XP_011541719.1:n.913-1G>C