Canonical Allele Identifier: CA2629468478
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74339556T>A , CM000677.2:g.74339556T>A GRCh38
NC_000015.9:g.74631897T>A , CM000677.1:g.74631897T>A GRCh37
NC_000015.8:g.72418950T>A NCBI36
NG_007973.1:g.33186A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.1157+31A>T MANE Select ENSP00000268053.6:n.1157+31A>T
ENST00000268053.10:c.1157+31A>T ENSP00000268053.6:n.1157+31A>T
ENST00000358632.8:c.683+31A>T ENSP00000351455.4:n.683+31A>T
ENST00000435365.5:c.1157+31A>T ENSP00000391081.1:n.1157+31A>T
NM_000781.2:c.1157+31A>T NP_000772.2:n.1157+31A>T
NM_001099773.1:c.683+31A>T NP_001093243.1:n.683+31A>T
NM_000781.3:c.1157+31A>T MANE Select NP_000772.2:n.1157+31A>T
NM_001099773.2:c.683+31A>T NP_001093243.1:n.683+31A>T