Canonical Allele Identifier: CA360723353

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552122C>G , CM000667.2:g.126552122C>G	GRCh38
NC_000005.9:g.125887814C>G , CM000667.1:g.125887814C>G	GRCh37
NC_000005.8:g.125915713C>G	NCBI36
NG_008600.2:g.48269G>C
NG_008600.3:g.48269G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1216G>C MANE Select	NP_001173.2:p.Gly406Arg
ENST00000409134.8:c.1216G>C MANE Select	ENSP00000387123.3:p.Gly406Arg
NM_001182.4:c.1216G>C	NP_001173.2:p.Gly406Arg
NM_001201377.1:c.1132G>C	NP_001188306.1:p.Gly378Arg
NM_001201377.2:c.1132G>C	NP_001188306.1:p.Gly378Arg
NM_001202404.1:c.1105G>C	NP_001189333.1:p.Gly369Arg
NM_001202404.2:c.1024G>C	NP_001189333.2:p.Gly342Arg
ENST00000409134.7:c.1216G>C	ENSP00000387123.3:p.Gly406Arg
ENST00000447989.6:c.1105G>C	ENSP00000414132.2:p.Gly369Arg
ENST00000458249.6:c.*1125G>C	ENSP00000403929.1:n.*1125G>C
ENST00000497231.6:n.1426G>C
ENST00000497231.7:n.1643G>C
ENST00000503281.5:c.805G>C
ENST00000503281.6:c.805G>C
ENST00000553117.5:c.1024G>C	ENSP00000448593.1:p.Gly342Arg
ENST00000635851.1:c.1214G>C
ENST00000636062.1:n.1111G>C
ENST00000636225.1:c.*1160G>C	ENSP00000490797.1:n.*1160G>C
ENST00000636286.1:n.934G>C
ENST00000636482.1:n.703G>C
ENST00000636743.1:c.1096G>C	ENSP00000489725.1:p.Gly366Arg
ENST00000636808.1:c.*1025G>C	ENSP00000490833.1:n.*1025G>C
ENST00000636872.1:c.1376G>C	ENSP00000490919.1:n.1376G>C
ENST00000636879.1:c.1261G>C	ENSP00000490811.1:p.Gly421Arg
ENST00000636886.1:c.1015G>C	ENSP00000490371.1:p.Gly339Arg
ENST00000637206.1:c.1036G>C	ENSP00000489895.1:p.Gly346Arg
ENST00000637272.1:c.1207G>C	ENSP00000489686.1:p.Gly403Arg
ENST00000637292.1:c.774-1829G>C
ENST00000637782.1:c.1216G>C	ENSP00000490024.1:p.Gly406Arg
ENST00000638008.1:c.*1060G>C	ENSP00000490400.1:n.*1060G>C
ENST00000638010.1:n.1162G>C
XM_011543417.1:c.811G>C	XP_011541719.1:p.Gly271Arg
XM_011543417.2:c.811G>C	XP_011541719.1:p.Gly271Arg