Canonical Allele Identifier: CA446283962

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125912785T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577093T>G , CM000667.2:g.126577093T>G	GRCh38
NC_000005.9:g.125912785T>G , CM000667.1:g.125912785T>G	GRCh37
NC_000005.8:g.125940684T>G	NCBI36
NG_008600.2:g.23298A>C
NG_008600.3:g.23298A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.636A>C MANE Select	ENSP00000387123.3:p.Gly212=
ENST00000412186.2:c.512A>C	ENSP00000414536.2:n.512A>C
ENST00000413020.6:c.636A>C	ENSP00000487936.1:p.Gly212=
ENST00000458249.6:c.*545A>C	ENSP00000403929.1:n.*545A>C
ENST00000503281.6:c.225A>C
ENST00000509270.2:c.570A>C	ENSP00000449318.2:p.Gly190=
ENST00000509459.6:c.184A>C
ENST00000511266.6:n.1358A>C
ENST00000635851.1:c.634A>C
ENST00000636062.1:n.531A>C
ENST00000636225.1:c.*445A>C	ENSP00000490797.1:n.*445A>C
ENST00000636286.1:n.354A>C
ENST00000636743.1:c.516A>C	ENSP00000489725.1:p.Gly172=
ENST00000636808.1:c.*445A>C	ENSP00000490833.1:n.*445A>C
ENST00000636872.1:c.796A>C	ENSP00000490919.1:n.796A>C
ENST00000636879.1:c.681A>C	ENSP00000490811.1:p.Gly227=
ENST00000636886.1:c.435A>C	ENSP00000490371.1:p.Gly145=
ENST00000637206.1:c.636A>C	ENSP00000489895.1:p.Gly212=
ENST00000637272.1:c.636A>C	ENSP00000489686.1:p.Gly212=
ENST00000637292.1:c.289A>C
ENST00000637782.1:c.636A>C	ENSP00000490024.1:p.Gly212=
ENST00000637964.1:c.582A>C	ENSP00000490291.1:p.Gly194=
ENST00000638008.1:c.*578A>C	ENSP00000490400.1:n.*578A>C
ENST00000409134.7:c.636A>C	ENSP00000387123.3:p.Gly212=
ENST00000413020.5:c.636A>C	ENSP00000487936.1:p.Gly212=
ENST00000433026.5:n.163A>C
ENST00000447989.6:c.717A>C	ENSP00000414132.2:p.Gly239=
ENST00000458249.5:c.796A>C	ENSP00000403929.1:n.796A>C
ENST00000503281.5:c.225A>C
ENST00000509459.5:c.184A>C
ENST00000510111.6:c.549A>C	ENSP00000447388.1:p.Gly183=
ENST00000511266.5:n.467A>C
ENST00000553117.5:c.636A>C	ENSP00000448593.1:p.Gly212=
NM_001182.4:c.636A>C	NP_001173.2:p.Gly212=
NM_001201377.1:c.552A>C	NP_001188306.1:p.Gly184=
NM_001202404.1:c.717A>C	NP_001189333.1:p.Gly239=
XM_011543417.1:c.231A>C	XP_011541719.1:p.Gly77=
XM_011543417.2:c.231A>C	XP_011541719.1:p.Gly77=
NM_001182.5:c.636A>C MANE Select	NP_001173.2:p.Gly212=
NM_001201377.2:c.552A>C	NP_001188306.1:p.Gly184=
NM_001202404.2:c.636A>C	NP_001189333.2:p.Gly212=