Canonical Allele Identifier: CA463326732

Linked Data

MyVariant Identifiers: chr8:g.143957205T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142875789T>A , CM000670.2:g.142875789T>A GRCh38
NC_000008.10:g.143957205T>A , CM000670.1:g.143957205T>A GRCh37
NC_000008.9:g.143954207T>A NCBI36
NG_007954.1:g.9032A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292427.10:c.1044A>T (CYP11B1) MANE Select ENSP00000292427.5:p.Ala348=
ENST00000292427.8:c.1044A>T (CYP11B1) ENSP00000292427.4:p.Ala348=
ENST00000314111.4:n.1439A>T (CYP11B1)
ENST00000377675.3:c.1257A>T (CYP11B1) ENSP00000366903.3:p.Ala419=
ENST00000517471.5:c.1044A>T (CYP11B1) ENSP00000428043.1:p.Ala348=
ENST00000519285.5:c.9A>T (CYP11B1) ENSP00000430144.1:p.Ala3=
ENST00000522728.5:c.181+34564T>A (GML) ENSP00000430799.1:n.181+34564T>A
NM_000497.3:c.1044A>T (CYP11B1) NP_000488.3:p.Ala348=
NM_001026213.1:c.1044A>T (CYP11B1) NP_001021384.1:p.Ala348=
XM_011516870.1:c.1122A>T (CYP11B1) XP_011515172.1:p.Ala374=
XM_011516871.1:c.1122A>T (CYP11B1) XP_011515173.1:p.Ala374=
XM_011516872.1:c.1044A>T (CYP11B1) XP_011515174.1:p.Ala348=
XM_011516873.1:c.1122A>T (CYP11B1) XP_011515175.1:p.Ala374=
XM_011516874.1:c.1122A>T (CYP11B1) XP_011515176.1:p.Ala374=
XM_011516875.1:c.861A>T (CYP11B1) XP_011515177.1:p.Ala287=
XM_011516876.1:c.1122A>T (CYP11B1) XP_011515178.1:p.Ala374=
XM_011516970.1:c.214+34564T>A (GML) XP_011515272.1:n.214+34564T>A
NM_000497.4:c.1044A>T (CYP11B1) MANE Select NP_000488.3:p.Ala348=