Canonical Allele Identifier: CA3389375

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546342T>C , CM000667.2:g.126546342T>C	GRCh38
NC_000005.9:g.125882034T>C , CM000667.1:g.125882034T>C	GRCh37
NC_000005.8:g.125909933T>C	NCBI36
NG_008600.2:g.54049A>G
NG_008600.3:g.54049A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1547A>G MANE Select	NP_001173.2:p.Tyr516Cys
ENST00000409134.8:c.1547A>G MANE Select	ENSP00000387123.3:p.Tyr516Cys
NM_001182.4:c.1547A>G	NP_001173.2:p.Tyr516Cys
NM_001201377.1:c.1463A>G	NP_001188306.1:p.Tyr488Cys
NM_001201377.2:c.1463A>G	NP_001188306.1:p.Tyr488Cys
NM_001202404.1:c.1436A>G	NP_001189333.1:p.Tyr479Cys
NM_001202404.2:c.1355A>G	NP_001189333.2:p.Tyr452Cys
ENST00000409134.7:c.1547A>G	ENSP00000387123.3:p.Tyr516Cys
ENST00000447989.6:c.1436A>G	ENSP00000414132.2:p.Tyr479Cys
ENST00000458249.6:c.*1456A>G	ENSP00000403929.1:n.*1456A>G
ENST00000485852.6:n.294A>G
ENST00000485852.7:n.294A>G
ENST00000497231.6:n.1757A>G
ENST00000497231.7:n.1974A>G
ENST00000553117.5:c.1355A>G	ENSP00000448593.1:p.Tyr452Cys
ENST00000635851.1:c.1545A>G
ENST00000636286.1:n.1312A>G
ENST00000636482.1:n.1081A>G
ENST00000636743.1:c.1427A>G	ENSP00000489725.1:p.Tyr476Cys
ENST00000636808.1:c.*1356A>G	ENSP00000490833.1:n.*1356A>G
ENST00000636872.1:c.1707A>G	ENSP00000490919.1:n.1707A>G
ENST00000636879.1:c.1592A>G	ENSP00000490811.1:p.Tyr531Cys
ENST00000636886.1:c.1346A>G	ENSP00000490371.1:p.Tyr449Cys
ENST00000637206.1:c.1367A>G	ENSP00000489895.1:p.Tyr456Cys
ENST00000637272.1:c.1538A>G	ENSP00000489686.1:p.Tyr513Cys
ENST00000637292.1:c.1003A>G
ENST00000637782.1:c.1547A>G	ENSP00000490024.1:p.Tyr516Cys
ENST00000638008.1:c.*1391A>G	ENSP00000490400.1:n.*1391A>G
ENST00000638010.1:n.1493A>G
XM_011543417.1:c.1142A>G	XP_011541719.1:p.Tyr381Cys
XM_011543417.2:c.1142A>G	XP_011541719.1:p.Tyr381Cys