Canonical Allele Identifier: CA3389960

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 350589
• ClinVar RCV Id: RCV000365925 ; RCV000998422 ; RCV003902359 ; RCV002520297
• dbSNP Id: rs563928852
• ExAC: 5:125930970 A / C
• gnomAD v2: 5-125930970-A-C
• gnomAD v3: 5-126595278-A-C
• gnomAD v4: 5-126595278-A-C
• MyVariant Identifiers: chr5:g.125930970A>C (hg19) ; chr5:g.126595278A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126595278A>C , CM000667.2:g.126595278A>C	GRCh38
NC_000005.9:g.125930970A>C , CM000667.1:g.125930970A>C	GRCh37
NC_000005.8:g.125958869A>C	NCBI36
NG_008600.2:g.5113T>G
NG_008600.3:g.5113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636808.1:c.-80T>G	ENSP00000490833.1:n.-80T>G
ENST00000409134.7:c.-80T>G	ENSP00000387123.3:n.-80T>G
ENST00000412186.1:c.-80T>G	ENSP00000414536.1:n.-80T>G
ENST00000447989.6:c.2T>G	ENSP00000414132.2:p.Met1Arg
ENST00000553117.5:c.-80T>G	ENSP00000448593.1:n.-80T>G
NM_001182.4:c.-80T>G	NP_001173.2:n.-80T>G
NM_001201377.1:c.-164T>G	NP_001188306.1:n.-164T>G
NM_001202404.1:c.2T>G	NP_001189333.1:p.Met1Arg