Canonical Allele Identifier: CA2187637855
Gene: CYP11A1 HGNC NCBI

Linked Data

dbSNP Id: rs2060596734
gnomAD v4: 15-74339570-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339570G>A , CM000677.2:g.74339570G>A GRCh38
NC_000015.9:g.74631911G>A , CM000677.1:g.74631911G>A GRCh37
NC_000015.8:g.72418964G>A NCBI36
NG_007973.1:g.33172C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268053.11:c.1157+17C>T MANE Select ENSP00000268053.6:n.1157+17C>T
ENST00000268053.10:c.1157+17C>T ENSP00000268053.6:n.1157+17C>T
ENST00000358632.8:c.683+17C>T ENSP00000351455.4:n.683+17C>T
ENST00000435365.5:c.1157+17C>T ENSP00000391081.1:n.1157+17C>T
NM_000781.2:c.1157+17C>T NP_000772.2:n.1157+17C>T
NM_001099773.1:c.683+17C>T NP_001093243.1:n.683+17C>T
NM_000781.3:c.1157+17C>T MANE Select NP_000772.2:n.1157+17C>T
NM_001099773.2:c.683+17C>T NP_001093243.1:n.683+17C>T
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