Canonical Allele Identifier: CA2675066528

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544926-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544926G>A , CM000667.2:g.126544926G>A	GRCh38
NC_000005.9:g.125880618G>A , CM000667.1:g.125880618G>A	GRCh37
NC_000005.8:g.125908517G>A	NCBI36
NG_008600.2:g.55465C>T
NG_008600.3:g.55465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*39C>T MANE Select	ENSP00000387123.3:n.*39C>T
ENST00000458249.6:c.*1568C>T	ENSP00000403929.1:n.*1568C>T
ENST00000485852.7:n.406C>T
ENST00000497231.7:n.2086C>T
ENST00000635851.1:c.1563+1398C>T
ENST00000636286.1:n.1424C>T
ENST00000636482.1:n.1193C>T
ENST00000636743.1:c.*39C>T	ENSP00000489725.1:n.*39C>T
ENST00000636808.1:c.*1468C>T	ENSP00000490833.1:n.*1468C>T
ENST00000636872.1:c.1819C>T	ENSP00000490919.1:n.1819C>T
ENST00000636879.1:c.*39C>T	ENSP00000490811.1:n.*39C>T
ENST00000636886.1:c.*39C>T	ENSP00000490371.1:n.*39C>T
ENST00000637206.1:c.*39C>T	ENSP00000489895.1:n.*39C>T
ENST00000637272.1:c.*39C>T	ENSP00000489686.1:n.*39C>T
ENST00000637292.1:c.1115C>T
ENST00000637782.1:c.1565+1398C>T	ENSP00000490024.1:n.1565+1398C>T
ENST00000638008.1:c.*1503C>T	ENSP00000490400.1:n.*1503C>T
ENST00000638010.1:n.1605C>T
ENST00000409134.7:c.*39C>T	ENSP00000387123.3:n.*39C>T
ENST00000447989.6:c.*39C>T	ENSP00000414132.2:n.*39C>T
ENST00000485852.6:n.406C>T
ENST00000497231.6:n.1869C>T
ENST00000553117.5:c.*39C>T	ENSP00000448593.1:n.*39C>T
NM_001182.4:c.*39C>T	NP_001173.2:n.*39C>T
NM_001201377.1:c.*39C>T	NP_001188306.1:n.*39C>T
NM_001202404.1:c.*39C>T	NP_001189333.1:n.*39C>T
XM_011543417.1:c.*39C>T	XP_011541719.1:n.*39C>T
XM_011543417.2:c.*39C>T	XP_011541719.1:n.*39C>T
NM_001182.5:c.*39C>T MANE Select	NP_001173.2:n.*39C>T
NM_001201377.2:c.*39C>T	NP_001188306.1:n.*39C>T
NM_001202404.2:c.*39C>T	NP_001189333.2:n.*39C>T