Canonical Allele Identifier: CA2675059046

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126577067-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577067A>G , CM000667.2:g.126577067A>G	GRCh38
NC_000005.9:g.125912759A>G , CM000667.1:g.125912759A>G	GRCh37
NC_000005.8:g.125940658A>G	NCBI36
NG_008600.2:g.23324T>C
NG_008600.3:g.23324T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.650+12T>C MANE Select	ENSP00000387123.3:n.650+12T>C
ENST00000412186.2:c.526+12T>C	ENSP00000414536.2:n.526+12T>C
ENST00000413020.6:c.650+12T>C	ENSP00000487936.1:n.650+12T>C
ENST00000458249.6:c.*559+12T>C	ENSP00000403929.1:n.*559+12T>C
ENST00000503281.6:c.239+12T>C
ENST00000509459.6:c.198+12T>C
ENST00000511266.6:n.1372+12T>C
ENST00000635851.1:c.648+12T>C
ENST00000636062.1:n.545+12T>C
ENST00000636225.1:c.*459+12T>C	ENSP00000490797.1:n.*459+12T>C
ENST00000636286.1:n.368+12T>C
ENST00000636743.1:c.530+12T>C	ENSP00000489725.1:n.530+12T>C
ENST00000636808.1:c.*459+12T>C	ENSP00000490833.1:n.*459+12T>C
ENST00000636872.1:c.810+12T>C	ENSP00000490919.1:n.810+12T>C
ENST00000636879.1:c.695+12T>C	ENSP00000490811.1:n.695+12T>C
ENST00000636886.1:c.449+12T>C	ENSP00000490371.1:n.449+12T>C
ENST00000637206.1:c.650+12T>C	ENSP00000489895.1:n.650+12T>C
ENST00000637272.1:c.650+12T>C	ENSP00000489686.1:n.650+12T>C
ENST00000637292.1:c.303+12T>C
ENST00000637782.1:c.650+12T>C	ENSP00000490024.1:n.650+12T>C
ENST00000637964.1:c.596+12T>C	ENSP00000490291.1:n.596+12T>C
ENST00000638008.1:c.*592+12T>C	ENSP00000490400.1:n.*592+12T>C
ENST00000409134.7:c.650+12T>C	ENSP00000387123.3:n.650+12T>C
ENST00000413020.5:c.650+12T>C	ENSP00000487936.1:n.650+12T>C
ENST00000433026.5:n.177+12T>C
ENST00000447989.6:c.731+12T>C	ENSP00000414132.2:n.731+12T>C
ENST00000458249.5:c.810+12T>C	ENSP00000403929.1:n.810+12T>C
ENST00000503281.5:c.239+12T>C
ENST00000509459.5:c.198+12T>C
ENST00000510111.6:c.563+12T>C	ENSP00000447388.1:n.563+12T>C
ENST00000511266.5:n.481+12T>C
ENST00000553117.5:c.650+12T>C	ENSP00000448593.1:n.650+12T>C
NM_001182.4:c.650+12T>C	NP_001173.2:n.650+12T>C
NM_001201377.1:c.566+12T>C	NP_001188306.1:n.566+12T>C
NM_001202404.1:c.731+12T>C	NP_001189333.1:n.731+12T>C
XM_011543417.1:c.245+12T>C	XP_011541719.1:n.245+12T>C
XM_011543417.2:c.245+12T>C	XP_011541719.1:n.245+12T>C
NM_001182.5:c.650+12T>C MANE Select	NP_001173.2:n.650+12T>C
NM_001201377.2:c.566+12T>C	NP_001188306.1:n.566+12T>C
NM_001202404.2:c.650+12T>C	NP_001189333.2:n.650+12T>C