Canonical Allele Identifier: CA372388750

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914359T>G , CM000670.2:g.142914359T>G GRCh38
NC_000008.10:g.143995775T>G , CM000670.1:g.143995775T>G GRCh37
NC_000008.9:g.143992777T>G NCBI36
NG_008374.1:g.8485A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.859A>C (CYP11B2) MANE Select ENSP00000325822.2:p.Thr287Pro
ENST00000522728.5:c.264+314T>G (GML) ENSP00000430799.1:n.264+314T>G
NM_000498.3:c.859A>C (CYP11B2) MANE Select NP_000489.3:p.Thr287Pro
XM_011516877.1:c.937A>C (CYP11B2) XP_011515179.1:p.Thr313Pro
XM_011516878.1:c.937A>C (CYP11B2) XP_011515180.1:p.Thr313Pro
XM_011516879.1:c.859A>C (CYP11B2) XP_011515181.1:p.Thr287Pro
XM_011516970.1:c.297+314T>G (GML) XP_011515272.1:n.297+314T>G