Canonical Allele Identifier: CA2021286698
Community Standard Title: NM_020297.4(ABCC9):c.4537G= (p.Ala1513=)
Gene: ABCC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21801157C= , CM000674.2:g.21801157C= GRCh38
NC_000012.11:g.21954091C= , CM000674.1:g.21954091C= GRCh37
NC_000012.10:g.21845358C= NCBI36
NG_012819.1:g.140538G= , LRG_377:g.140538G=

Transcript Alleles

HGVS Amino-acid Change
NM_020297.4:c.4537G= MANE Select NP_064693.2:p.Ala1513=
ENST00000261200.9:c.4537G= MANE Select ENSP00000261200.4:p.Ala1513=
NM_001377273.1:c.4537G= NP_001364202.1:p.Ala1513=
NM_001377274.1:c.3670G= NP_001364203.1:p.Ala1224=
NM_005691.4:c.*63G= NP_005682.2:n.*63G=
NM_020297.3:c.4537G= NP_064693.2:p.Ala1513=
ENST00000261200.8:c.4537G= ENSP00000261200.4:p.Ala1513=
ENST00000261201.10:c.*63G= ENSP00000261201.4:n.*63G=
ENST00000261201.9:c.4713G= ENSP00000261201.4:n.4713G=
ENST00000682426.1:n.2114G=
ENST00000682879.1:c.*3635G= ENSP00000508210.1:n.*3635G=
ENST00000683105.1:c.*561G= ENSP00000506801.1:n.*561G=
ENST00000683676.1:c.4212-2019G= ENSP00000508167.1:n.4212-2019G=
ENST00000683695.1:n.1002G=
ENST00000684084.1:c.4486G= ENSP00000507859.1:p.Ala1496=
XM_005253284.2:c.4537G= XP_005253341.1:p.Ala1513=
XM_005253284.4:c.4537G= XP_005253341.1:p.Ala1513=
XM_005253286.2:c.4537G= XP_005253343.1:p.Ala1513=
XM_005253286.4:c.4537G= XP_005253343.1:p.Ala1513=
XM_005253287.3:c.*63G= XP_005253344.1:n.*63G=
XM_005253287.5:c.*63G= XP_005253344.1:n.*63G=
XM_005253288.2:c.4537G= XP_005253345.1:p.Ala1513=
XM_005253288.4:c.4537G= XP_005253345.1:p.Ala1513=
XM_005253289.2:c.4498G= XP_005253346.1:p.Ala1500=
XM_005253289.4:c.4498G= XP_005253346.1:p.Ala1500=
XM_005253290.2:c.4396G= XP_005253347.1:p.Ala1466=
XM_005253290.4:c.4396G= XP_005253347.1:p.Ala1466=
XM_006719025.2:c.*63G= XP_006719088.1:n.*63G=
XM_006719025.4:c.*63G= XP_006719088.1:n.*63G=
XM_011520545.1:c.4537G= XP_011518847.1:p.Ala1513=
XM_011520545.3:c.4537G= XP_011518847.1:p.Ala1513=
XR_931420.1:n.632-26053C=
XR_931420.3:n.632-26053C=
XR_931421.1:n.632-26053C=
XR_931422.1:n.306-26053C=
XR_931422.2:n.318-26053C=