Canonical Allele Identifier: CA360731116

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577145T>G , CM000667.2:g.126577145T>G	GRCh38
NC_000005.9:g.125912837T>G , CM000667.1:g.125912837T>G	GRCh37
NC_000005.8:g.125940736T>G	NCBI36
NG_008600.2:g.23246A>C
NG_008600.3:g.23246A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.584A>C MANE Select	NP_001173.2:p.Asn195Thr
ENST00000409134.8:c.584A>C MANE Select	ENSP00000387123.3:p.Asn195Thr
NM_001182.4:c.584A>C	NP_001173.2:p.Asn195Thr
NM_001201377.1:c.500A>C	NP_001188306.1:p.Asn167Thr
NM_001201377.2:c.500A>C	NP_001188306.1:p.Asn167Thr
NM_001202404.1:c.665A>C	NP_001189333.1:p.Asn222Thr
NM_001202404.2:c.584A>C	NP_001189333.2:p.Asn195Thr
ENST00000409134.7:c.584A>C	ENSP00000387123.3:p.Asn195Thr
ENST00000412186.2:c.460A>C	ENSP00000414536.2:n.460A>C
ENST00000413020.5:c.584A>C	ENSP00000487936.1:p.Asn195Thr
ENST00000413020.6:c.584A>C	ENSP00000487936.1:p.Asn195Thr
ENST00000433026.5:n.111A>C
ENST00000447989.6:c.665A>C	ENSP00000414132.2:p.Asn222Thr
ENST00000458249.5:c.744A>C	ENSP00000403929.1:n.744A>C
ENST00000458249.6:c.*493A>C	ENSP00000403929.1:n.*493A>C
ENST00000503281.5:c.173A>C
ENST00000503281.6:c.173A>C
ENST00000509270.2:c.518A>C	ENSP00000449318.2:p.Asn173Thr
ENST00000509459.5:c.132A>C
ENST00000509459.6:c.132A>C
ENST00000510111.6:c.497A>C	ENSP00000447388.1:p.Asn166Thr
ENST00000511266.5:n.415A>C
ENST00000511266.6:n.1306A>C
ENST00000553117.5:c.584A>C	ENSP00000448593.1:p.Asn195Thr
ENST00000635851.1:c.582A>C
ENST00000636062.1:n.479A>C
ENST00000636225.1:c.*393A>C	ENSP00000490797.1:n.*393A>C
ENST00000636286.1:n.302A>C
ENST00000636743.1:c.464A>C	ENSP00000489725.1:p.Asn155Thr
ENST00000636808.1:c.*393A>C	ENSP00000490833.1:n.*393A>C
ENST00000636872.1:c.744A>C	ENSP00000490919.1:n.744A>C
ENST00000636879.1:c.629A>C	ENSP00000490811.1:p.Asn210Thr
ENST00000636886.1:c.383A>C	ENSP00000490371.1:p.Asn128Thr
ENST00000637206.1:c.584A>C	ENSP00000489895.1:p.Asn195Thr
ENST00000637272.1:c.584A>C	ENSP00000489686.1:p.Asn195Thr
ENST00000637292.1:c.237A>C
ENST00000637782.1:c.584A>C	ENSP00000490024.1:p.Asn195Thr
ENST00000637964.1:c.530A>C	ENSP00000490291.1:p.Asn177Thr
ENST00000638008.1:c.*526A>C	ENSP00000490400.1:n.*526A>C
XM_011543417.1:c.179A>C	XP_011541719.1:p.Asn60Thr
XM_011543417.2:c.179A>C	XP_011541719.1:p.Asn60Thr