Canonical Allele Identifier: CA126882023

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 903757
• ClinVar RCV Id: RCV001151273
• dbSNP Id: rs570223278
• gnomAD v2: 5-125880338-A-C
• gnomAD v3: 5-126544646-A-C
• gnomAD v4: 5-126544646-A-C
• MyVariant Identifiers: chr5:g.125880338A>C (hg19) ; chr5:g.126544646A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126544646A>C , CM000667.2:g.126544646A>C	GRCh38
NC_000005.9:g.125880338A>C , CM000667.1:g.125880338A>C	GRCh37
NC_000005.8:g.125908237A>C	NCBI36
NG_008600.2:g.55745T>G
NG_008600.3:g.55745T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.*319T>G MANE Select	ENSP00000387123.3:n.*319T>G
ENST00000635851.1:c.1563+1678T>G
ENST00000636743.1:c.*319T>G	ENSP00000489725.1:n.*319T>G
ENST00000636808.1:c.*1748T>G	ENSP00000490833.1:n.*1748T>G
ENST00000636872.1:c.2099T>G	ENSP00000490919.1:n.2099T>G
ENST00000636879.1:c.*319T>G	ENSP00000490811.1:n.*319T>G
ENST00000636886.1:c.*319T>G	ENSP00000490371.1:n.*319T>G
ENST00000637206.1:c.*319T>G	ENSP00000489895.1:n.*319T>G
ENST00000637272.1:c.*319T>G	ENSP00000489686.1:n.*319T>G
ENST00000637782.1:c.1565+1678T>G	ENSP00000490024.1:n.1565+1678T>G
ENST00000409134.7:c.*319T>G	ENSP00000387123.3:n.*319T>G
ENST00000447989.6:c.*319T>G	ENSP00000414132.2:n.*319T>G
ENST00000553117.5:c.*319T>G	ENSP00000448593.1:n.*319T>G
NM_001182.4:c.*319T>G	NP_001173.2:n.*319T>G
NM_001201377.1:c.*319T>G	NP_001188306.1:n.*319T>G
NM_001202404.1:c.*319T>G	NP_001189333.1:n.*319T>G
XM_011543417.2:c.*319T>G	XP_011541719.1:n.*319T>G
NM_001182.5:c.*319T>G MANE Select	NP_001173.2:n.*319T>G
NM_001201377.2:c.*319T>G	NP_001188306.1:n.*319T>G
NM_001202404.2:c.*319T>G	NP_001189333.2:n.*319T>G