Canonical Allele Identifier: CA360730970

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912782A>C (hg19) ; chr5:g.126577090A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577090A>C , CM000667.2:g.126577090A>C	GRCh38
NC_000005.9:g.125912782A>C , CM000667.1:g.125912782A>C	GRCh37
NC_000005.8:g.125940681A>C	NCBI36
NG_008600.2:g.23301T>G
NG_008600.3:g.23301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.639T>G MANE Select	ENSP00000387123.3:p.Asn213Lys
ENST00000412186.2:c.515T>G	ENSP00000414536.2:n.515T>G
ENST00000413020.6:c.639T>G	ENSP00000487936.1:p.Asn213Lys
ENST00000458249.6:c.*548T>G	ENSP00000403929.1:n.*548T>G
ENST00000503281.6:c.228T>G
ENST00000509270.2:c.573T>G	ENSP00000449318.2:p.Asn191Lys
ENST00000509459.6:c.187T>G
ENST00000511266.6:n.1361T>G
ENST00000635851.1:c.637T>G
ENST00000636062.1:n.534T>G
ENST00000636225.1:c.*448T>G	ENSP00000490797.1:n.*448T>G
ENST00000636286.1:n.357T>G
ENST00000636743.1:c.519T>G	ENSP00000489725.1:p.Asn173Lys
ENST00000636808.1:c.*448T>G	ENSP00000490833.1:n.*448T>G
ENST00000636872.1:c.799T>G	ENSP00000490919.1:n.799T>G
ENST00000636879.1:c.684T>G	ENSP00000490811.1:p.Asn228Lys
ENST00000636886.1:c.438T>G	ENSP00000490371.1:p.Asn146Lys
ENST00000637206.1:c.639T>G	ENSP00000489895.1:p.Asn213Lys
ENST00000637272.1:c.639T>G	ENSP00000489686.1:p.Asn213Lys
ENST00000637292.1:c.292T>G
ENST00000637782.1:c.639T>G	ENSP00000490024.1:p.Asn213Lys
ENST00000637964.1:c.585T>G	ENSP00000490291.1:p.Asn195Lys
ENST00000638008.1:c.*581T>G	ENSP00000490400.1:n.*581T>G
ENST00000409134.7:c.639T>G	ENSP00000387123.3:p.Asn213Lys
ENST00000413020.5:c.639T>G	ENSP00000487936.1:p.Asn213Lys
ENST00000433026.5:n.166T>G
ENST00000447989.6:c.720T>G	ENSP00000414132.2:p.Asn240Lys
ENST00000458249.5:c.799T>G	ENSP00000403929.1:n.799T>G
ENST00000503281.5:c.228T>G
ENST00000509459.5:c.187T>G
ENST00000510111.6:c.552T>G	ENSP00000447388.1:p.Asn184Lys
ENST00000511266.5:n.470T>G
ENST00000553117.5:c.639T>G	ENSP00000448593.1:p.Asn213Lys
NM_001182.4:c.639T>G	NP_001173.2:p.Asn213Lys
NM_001201377.1:c.555T>G	NP_001188306.1:p.Asn185Lys
NM_001202404.1:c.720T>G	NP_001189333.1:p.Asn240Lys
XM_011543417.1:c.234T>G	XP_011541719.1:p.Asn78Lys
XM_011543417.2:c.234T>G	XP_011541719.1:p.Asn78Lys
NM_001182.5:c.639T>G MANE Select	NP_001173.2:p.Asn213Lys
NM_001201377.2:c.555T>G	NP_001188306.1:p.Asn185Lys
NM_001202404.2:c.639T>G	NP_001189333.2:p.Asn213Lys