Canonical Allele Identifier: CA393150200
Gene: CYP11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74347931A>G , CM000677.2:g.74347931A>G GRCh38
NC_000015.9:g.74640272A>G , CM000677.1:g.74640272A>G GRCh37
NC_000015.8:g.72427325A>G NCBI36
NG_007973.1:g.24811T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268053.11:c.394T>C MANE Select ENSP00000268053.6:p.Tyr132His
ENST00000268053.10:c.394T>C ENSP00000268053.6:p.Tyr132His
ENST00000358632.8:c.-81T>C ENSP00000351455.4:n.-81T>C
ENST00000416978.1:c.394T>C ENSP00000388018.1:p.Tyr132His
ENST00000435365.5:c.394T>C ENSP00000391081.1:p.Tyr132His
ENST00000450547.1:c.-81T>C ENSP00000402064.1:n.-81T>C
ENST00000466978.1:n.788T>C
ENST00000566674.5:c.-81T>C ENSP00000456941.1:n.-81T>C
ENST00000569662.1:c.-49-2688T>C ENSP00000456598.1:n.-49-2688T>C
NM_000781.2:c.394T>C NP_000772.2:p.Tyr132His
NM_001099773.1:c.-81T>C NP_001093243.1:n.-81T>C
NM_000781.3:c.394T>C MANE Select NP_000772.2:p.Tyr132His
NM_001099773.2:c.-81T>C NP_001093243.1:n.-81T>C