Canonical Allele Identifier: CA372389105

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914717T>A , CM000670.2:g.142914717T>A GRCh38
NC_000008.10:g.143996133T>A , CM000670.1:g.143996133T>A GRCh37
NC_000008.9:g.143993135T>A NCBI36
NG_008374.1:g.8127A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.787A>T (CYP11B2) MANE Select ENSP00000325822.2:p.Ile263Phe
ENST00000522728.5:c.264+672T>A (GML) ENSP00000430799.1:n.264+672T>A
NM_000498.3:c.787A>T (CYP11B2) MANE Select NP_000489.3:p.Ile263Phe
XM_011516877.1:c.865A>T (CYP11B2) XP_011515179.1:p.Ile289Phe
XM_011516878.1:c.865A>T (CYP11B2) XP_011515180.1:p.Ile289Phe
XM_011516879.1:c.787A>T (CYP11B2) XP_011515181.1:p.Ile263Phe
XM_011516970.1:c.297+672T>A (GML) XP_011515272.1:n.297+672T>A