Canonical Allele Identifier: CA372388372

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914271A>T , CM000670.2:g.142914271A>T GRCh38
NC_000008.10:g.143995687A>T , CM000670.1:g.143995687A>T GRCh37
NC_000008.9:g.143992689A>T NCBI36
NG_008374.1:g.8573T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.947T>A (CYP11B2) MANE Select ENSP00000325822.2:p.Val316Glu
ENST00000522728.5:c.264+226A>T (GML) ENSP00000430799.1:n.264+226A>T
NM_000498.3:c.947T>A (CYP11B2) MANE Select NP_000489.3:p.Val316Glu
XM_011516877.1:c.1025T>A (CYP11B2) XP_011515179.1:p.Val342Glu
XM_011516878.1:c.1025T>A (CYP11B2) XP_011515180.1:p.Val342Glu
XM_011516879.1:c.947T>A (CYP11B2) XP_011515181.1:p.Val316Glu
XM_011516970.1:c.297+226A>T (GML) XP_011515272.1:n.297+226A>T