Canonical Allele Identifier: CA372389163

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914735A>T , CM000670.2:g.142914735A>T GRCh38
NC_000008.10:g.143996151A>T , CM000670.1:g.143996151A>T GRCh37
NC_000008.9:g.143993153A>T NCBI36
NG_008374.1:g.8109T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.769T>A (CYP11B2) MANE Select ENSP00000325822.2:p.Phe257Ile
ENST00000522728.5:c.264+690A>T (GML) ENSP00000430799.1:n.264+690A>T
NM_000498.3:c.769T>A (CYP11B2) MANE Select NP_000489.3:p.Phe257Ile
XM_011516877.1:c.847T>A (CYP11B2) XP_011515179.1:p.Phe283Ile
XM_011516878.1:c.847T>A (CYP11B2) XP_011515180.1:p.Phe283Ile
XM_011516879.1:c.769T>A (CYP11B2) XP_011515181.1:p.Phe257Ile
XM_011516970.1:c.297+690A>T (GML) XP_011515272.1:n.297+690A>T