Canonical Allele Identifier: CA2629468400
Gene: CYP11A1 HGNC NCBI

Linked Data

gnomAD v4: 15-74339465-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339465A>G , CM000677.2:g.74339465A>G GRCh38
NC_000015.9:g.74631806A>G , CM000677.1:g.74631806A>G GRCh37
NC_000015.8:g.72418859A>G NCBI36
NG_007973.1:g.33277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1157+122T>C MANE Select ENSP00000268053.6:n.1157+122T>C
ENST00000268053.10:c.1157+122T>C ENSP00000268053.6:n.1157+122T>C
ENST00000358632.8:c.683+122T>C ENSP00000351455.4:n.683+122T>C
ENST00000435365.5:c.1157+122T>C ENSP00000391081.1:n.1157+122T>C
NM_000781.2:c.1157+122T>C NP_000772.2:n.1157+122T>C
NM_001099773.1:c.683+122T>C NP_001093243.1:n.683+122T>C
NM_000781.3:c.1157+122T>C MANE Select NP_000772.2:n.1157+122T>C
NM_001099773.2:c.683+122T>C NP_001093243.1:n.683+122T>C
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