Canonical Allele Identifier: CA3389960
Gene: ALDH7A1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.126595278A>C
GRCh37 chr5:g.125930970A>C
Revel Score:
ENST00000447989 0.254
gnomAD v2:
5:125930970 A / C
gnomAD v3:
5:126595278 A / C
gnomAD v4:
chr5-126595278-A-C
Joint Max Group AF 0.00524964 (NFE)
Genomes Max Group AF 0.0041169 (NFE)
Exomes Max Group AF 0.00530814 (NFE)
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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
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