Canonical Allele Identifier: CA2187643747
Gene: CYP11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74347933T= , CM000677.2:g.74347933T= GRCh38
NC_000015.9:g.74640274T= , CM000677.1:g.74640274T= GRCh37
NC_000015.8:g.72427327T= NCBI36
NG_007973.1:g.24809A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.392A= MANE Select ENSP00000268053.6:p.Gln131=
ENST00000268053.10:c.392A= ENSP00000268053.6:p.Gln131=
ENST00000358632.8:c.-83A= ENSP00000351455.4:n.-83A=
ENST00000416978.1:c.392A= ENSP00000388018.1:p.Gln131=
ENST00000435365.5:c.392A= ENSP00000391081.1:p.Gln131=
ENST00000450547.1:c.-83A= ENSP00000402064.1:n.-83A=
ENST00000466978.1:n.786A=
ENST00000566674.5:c.-83A= ENSP00000456941.1:n.-83A=
ENST00000569662.1:c.-49-2690A= ENSP00000456598.1:n.-49-2690A=
NM_000781.2:c.392A= NP_000772.2:p.Gln131=
NM_001099773.1:c.-83A= NP_001093243.1:n.-83A=
NM_000781.3:c.392A= MANE Select NP_000772.2:p.Gln131=
NM_001099773.2:c.-83A= NP_001093243.1:n.-83A=