Canonical Allele Identifier: CA562237563

Gene: ALDH7A1

Linked Data

• dbSNP Id: rs1235702290
• gnomAD v2: 5-125912760-G-A
• gnomAD v4: 5-126577068-G-A
• MyVariant Identifiers: chr5:g.125912760G>A (hg19) ; chr5:g.126577068G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577068G>A , CM000667.2:g.126577068G>A	GRCh38
NC_000005.9:g.125912760G>A , CM000667.1:g.125912760G>A	GRCh37
NC_000005.8:g.125940659G>A	NCBI36
NG_008600.2:g.23323C>T
NG_008600.3:g.23323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.650+11C>T MANE Select	ENSP00000387123.3:n.650+11C>T
ENST00000412186.2:c.526+11C>T	ENSP00000414536.2:n.526+11C>T
ENST00000413020.6:c.650+11C>T	ENSP00000487936.1:n.650+11C>T
ENST00000458249.6:c.*559+11C>T	ENSP00000403929.1:n.*559+11C>T
ENST00000503281.6:c.239+11C>T
ENST00000509459.6:c.198+11C>T
ENST00000511266.6:n.1372+11C>T
ENST00000635851.1:c.648+11C>T
ENST00000636062.1:n.545+11C>T
ENST00000636225.1:c.*459+11C>T	ENSP00000490797.1:n.*459+11C>T
ENST00000636286.1:n.368+11C>T
ENST00000636743.1:c.530+11C>T	ENSP00000489725.1:n.530+11C>T
ENST00000636808.1:c.*459+11C>T	ENSP00000490833.1:n.*459+11C>T
ENST00000636872.1:c.810+11C>T	ENSP00000490919.1:n.810+11C>T
ENST00000636879.1:c.695+11C>T	ENSP00000490811.1:n.695+11C>T
ENST00000636886.1:c.449+11C>T	ENSP00000490371.1:n.449+11C>T
ENST00000637206.1:c.650+11C>T	ENSP00000489895.1:n.650+11C>T
ENST00000637272.1:c.650+11C>T	ENSP00000489686.1:n.650+11C>T
ENST00000637292.1:c.303+11C>T
ENST00000637782.1:c.650+11C>T	ENSP00000490024.1:n.650+11C>T
ENST00000637964.1:c.596+11C>T	ENSP00000490291.1:n.596+11C>T
ENST00000638008.1:c.*592+11C>T	ENSP00000490400.1:n.*592+11C>T
ENST00000409134.7:c.650+11C>T	ENSP00000387123.3:n.650+11C>T
ENST00000413020.5:c.650+11C>T	ENSP00000487936.1:n.650+11C>T
ENST00000433026.5:n.177+11C>T
ENST00000447989.6:c.731+11C>T	ENSP00000414132.2:n.731+11C>T
ENST00000458249.5:c.810+11C>T	ENSP00000403929.1:n.810+11C>T
ENST00000503281.5:c.239+11C>T
ENST00000509459.5:c.198+11C>T
ENST00000510111.6:c.563+11C>T	ENSP00000447388.1:n.563+11C>T
ENST00000511266.5:n.481+11C>T
ENST00000553117.5:c.650+11C>T	ENSP00000448593.1:n.650+11C>T
NM_001182.4:c.650+11C>T	NP_001173.2:n.650+11C>T
NM_001201377.1:c.566+11C>T	NP_001188306.1:n.566+11C>T
NM_001202404.1:c.731+11C>T	NP_001189333.1:n.731+11C>T
XM_011543417.1:c.245+11C>T	XP_011541719.1:n.245+11C>T
XM_011543417.2:c.245+11C>T	XP_011541719.1:n.245+11C>T
NM_001182.5:c.650+11C>T MANE Select	NP_001173.2:n.650+11C>T
NM_001201377.2:c.566+11C>T	NP_001188306.1:n.566+11C>T
NM_001202404.2:c.650+11C>T	NP_001189333.2:n.650+11C>T