Canonical Allele Identifier: CA372386044

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912565G>T , CM000670.2:g.142912565G>T GRCh38
NC_000008.10:g.143993981G>T , CM000670.1:g.143993981G>T GRCh37
NC_000008.9:g.143990983G>T NCBI36
NG_008374.1:g.10279C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.1363C>A (CYP11B2) MANE Select ENSP00000325822.2:p.Leu455Met
ENST00000522728.5:c.182-1398G>T (GML) ENSP00000430799.1:n.182-1398G>T
NM_000498.3:c.1363C>A (CYP11B2) MANE Select NP_000489.3:p.Leu455Met
XM_011516877.1:c.1510C>A (CYP11B2) XP_011515179.1:p.Leu504Met
XM_011516878.1:c.1441C>A (CYP11B2) XP_011515180.1:p.Leu481Met
XM_011516879.1:c.1432C>A (CYP11B2) XP_011515181.1:p.Leu478Met
XM_011516970.1:c.215-1398G>T (GML) XP_011515272.1:n.215-1398G>T