Canonical Allele Identifier: CA126948

Linked Data

ClinVar Variation Id: 16885
ClinVar RCV Id: RCV000018381
dbSNP Id: rs72554626

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912000T>C , CM000670.2:g.142912000T>C GRCh38
NC_000008.10:g.143993416T>C , CM000670.1:g.143993416T>C GRCh37
NC_000008.9:g.143990418T>C NCBI36
NG_008374.1:g.10844A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000323110.2:c.1492A>G (CYP11B2) MANE Select ENSP00000325822.2:p.Thr498Ala
ENST00000522728.5:c.182-1963T>C (GML) ENSP00000430799.1:n.182-1963T>C
NM_000498.3:c.1492A>G (CYP11B2) MANE Select NP_000489.3:p.Thr498Ala
XM_011516877.1:c.1639A>G (CYP11B2) XP_011515179.1:p.Thr547Ala
XM_011516878.1:c.1570A>G (CYP11B2) XP_011515180.1:p.Thr524Ala
XM_011516879.1:c.1561A>G (CYP11B2) XP_011515181.1:p.Thr521Ala
XM_011516970.1:c.215-1963T>C (GML) XP_011515272.1:n.215-1963T>C