Canonical Allele Identifier: CA360719133

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546357T>C , CM000667.2:g.126546357T>C	GRCh38
NC_000005.9:g.125882049T>C , CM000667.1:g.125882049T>C	GRCh37
NC_000005.8:g.125909948T>C	NCBI36
NG_008600.2:g.54034A>G
NG_008600.3:g.54034A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1532A>G MANE Select	NP_001173.2:p.Asp511Gly
ENST00000409134.8:c.1532A>G MANE Select	ENSP00000387123.3:p.Asp511Gly
NM_001182.4:c.1532A>G	NP_001173.2:p.Asp511Gly
NM_001201377.1:c.1448A>G	NP_001188306.1:p.Asp483Gly
NM_001201377.2:c.1448A>G	NP_001188306.1:p.Asp483Gly
NM_001202404.1:c.1421A>G	NP_001189333.1:p.Asp474Gly
NM_001202404.2:c.1340A>G	NP_001189333.2:p.Asp447Gly
ENST00000409134.7:c.1532A>G	ENSP00000387123.3:p.Asp511Gly
ENST00000447989.6:c.1421A>G	ENSP00000414132.2:p.Asp474Gly
ENST00000458249.6:c.*1441A>G	ENSP00000403929.1:n.*1441A>G
ENST00000485852.6:n.279A>G
ENST00000485852.7:n.279A>G
ENST00000497231.6:n.1742A>G
ENST00000497231.7:n.1959A>G
ENST00000553117.5:c.1340A>G	ENSP00000448593.1:p.Asp447Gly
ENST00000635851.1:c.1530A>G
ENST00000636225.1:c.*1476A>G	ENSP00000490797.1:n.*1476A>G
ENST00000636286.1:n.1297A>G
ENST00000636482.1:n.1066A>G
ENST00000636743.1:c.1412A>G	ENSP00000489725.1:p.Asp471Gly
ENST00000636808.1:c.*1341A>G	ENSP00000490833.1:n.*1341A>G
ENST00000636872.1:c.1692A>G	ENSP00000490919.1:n.1692A>G
ENST00000636879.1:c.1577A>G	ENSP00000490811.1:p.Asp526Gly
ENST00000636886.1:c.1331A>G	ENSP00000490371.1:p.Asp444Gly
ENST00000637206.1:c.1352A>G	ENSP00000489895.1:p.Asp451Gly
ENST00000637272.1:c.1523A>G	ENSP00000489686.1:p.Asp508Gly
ENST00000637292.1:c.988A>G
ENST00000637782.1:c.1532A>G	ENSP00000490024.1:p.Asp511Gly
ENST00000638008.1:c.*1376A>G	ENSP00000490400.1:n.*1376A>G
ENST00000638010.1:n.1478A>G
XM_011543417.1:c.1127A>G	XP_011541719.1:p.Asp376Gly
XM_011543417.2:c.1127A>G	XP_011541719.1:p.Asp376Gly