Canonical Allele Identifier: CA3389736

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577201A>G , CM000667.2:g.126577201A>G	GRCh38
NC_000005.9:g.125912893A>G , CM000667.1:g.125912893A>G	GRCh37
NC_000005.8:g.125940792A>G	NCBI36
NG_008600.2:g.23190T>C
NG_008600.3:g.23190T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.528T>C MANE Select	NP_001173.2:p.His176=
ENST00000409134.8:c.528T>C MANE Select	ENSP00000387123.3:p.His176=
NM_001182.4:c.528T>C	NP_001173.2:p.His176=
NM_001201377.1:c.444T>C	NP_001188306.1:p.His148=
NM_001201377.2:c.444T>C	NP_001188306.1:p.His148=
NM_001202404.1:c.609T>C	NP_001189333.1:p.His203=
NM_001202404.2:c.528T>C	NP_001189333.2:p.His176=
ENST00000409134.7:c.528T>C	ENSP00000387123.3:p.His176=
ENST00000412186.2:c.404T>C	ENSP00000414536.2:p.Met135Thr
ENST00000413020.5:c.528T>C	ENSP00000487936.1:p.His176=
ENST00000413020.6:c.528T>C	ENSP00000487936.1:p.His176=
ENST00000433026.5:n.55T>C
ENST00000447989.6:c.609T>C	ENSP00000414132.2:p.His203=
ENST00000458249.5:c.688T>C	ENSP00000403929.1:n.688T>C
ENST00000458249.6:c.*437T>C	ENSP00000403929.1:n.*437T>C
ENST00000503281.5:c.117T>C
ENST00000503281.6:c.117T>C
ENST00000509270.1:c.408T>C	ENSP00000449318.1:p.His136=
ENST00000509270.2:c.462T>C	ENSP00000449318.2:p.His154=
ENST00000509459.5:c.76T>C
ENST00000509459.6:c.76T>C
ENST00000510111.6:c.441T>C	ENSP00000447388.1:p.His147=
ENST00000511266.5:n.359T>C
ENST00000511266.6:n.1250T>C
ENST00000553117.5:c.528T>C	ENSP00000448593.1:p.His176=
ENST00000635851.1:c.526T>C
ENST00000636062.1:n.423T>C
ENST00000636225.1:c.*337T>C	ENSP00000490797.1:n.*337T>C
ENST00000636286.1:n.246T>C
ENST00000636743.1:c.408T>C	ENSP00000489725.1:p.His136=
ENST00000636808.1:c.*337T>C	ENSP00000490833.1:n.*337T>C
ENST00000636872.1:c.688T>C	ENSP00000490919.1:n.688T>C
ENST00000636879.1:c.573T>C	ENSP00000490811.1:p.His191=
ENST00000636886.1:c.327T>C	ENSP00000490371.1:p.His109=
ENST00000637206.1:c.528T>C	ENSP00000489895.1:p.His176=
ENST00000637272.1:c.528T>C	ENSP00000489686.1:p.His176=
ENST00000637292.1:c.181T>C
ENST00000637782.1:c.528T>C	ENSP00000490024.1:p.His176=
ENST00000637964.1:c.474T>C	ENSP00000490291.1:p.His158=
ENST00000638008.1:c.*470T>C	ENSP00000490400.1:n.*470T>C
XM_011543417.1:c.123T>C	XP_011541719.1:p.His41=
XM_011543417.2:c.123T>C	XP_011541719.1:p.His41=