Canonical Allele Identifier: CA2675065926

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126544742-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544742C>A , CM000667.2:g.126544742C>A	GRCh38
NC_000005.9:g.125880434C>A , CM000667.1:g.125880434C>A	GRCh37
NC_000005.8:g.125908333C>A	NCBI36
NG_008600.2:g.55649G>T
NG_008600.3:g.55649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*223G>T MANE Select	ENSP00000387123.3:n.*223G>T
ENST00000635851.1:c.1563+1582G>T
ENST00000636743.1:c.*223G>T	ENSP00000489725.1:n.*223G>T
ENST00000636808.1:c.*1652G>T	ENSP00000490833.1:n.*1652G>T
ENST00000636872.1:c.2003G>T	ENSP00000490919.1:n.2003G>T
ENST00000636879.1:c.*223G>T	ENSP00000490811.1:n.*223G>T
ENST00000636886.1:c.*223G>T	ENSP00000490371.1:n.*223G>T
ENST00000637206.1:c.*223G>T	ENSP00000489895.1:n.*223G>T
ENST00000637272.1:c.*223G>T	ENSP00000489686.1:n.*223G>T
ENST00000637782.1:c.1565+1582G>T	ENSP00000490024.1:n.1565+1582G>T
ENST00000409134.7:c.*223G>T	ENSP00000387123.3:n.*223G>T
ENST00000447989.6:c.*223G>T	ENSP00000414132.2:n.*223G>T
ENST00000485852.6:n.590G>T
ENST00000553117.5:c.*223G>T	ENSP00000448593.1:n.*223G>T
NM_001182.4:c.*223G>T	NP_001173.2:n.*223G>T
NM_001201377.1:c.*223G>T	NP_001188306.1:n.*223G>T
NM_001202404.1:c.*223G>T	NP_001189333.1:n.*223G>T
XM_011543417.2:c.*223G>T	XP_011541719.1:n.*223G>T
NM_001182.5:c.*223G>T MANE Select	NP_001173.2:n.*223G>T
NM_001201377.2:c.*223G>T	NP_001188306.1:n.*223G>T
NM_001202404.2:c.*223G>T	NP_001189333.2:n.*223G>T