Canonical Allele Identifier: CA478869608
Community Standard Title: NM_020297.4(ABCC9):c.4332A>G (p.Glu1444=)
Gene: ABCC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21807463T>C , CM000674.2:g.21807463T>C GRCh38
NC_000012.11:g.21960397T>C , CM000674.1:g.21960397T>C GRCh37
NC_000012.10:g.21851664T>C NCBI36
NG_012819.1:g.134232A>G , LRG_377:g.134232A>G

Transcript Alleles

HGVS Amino-acid Change
NM_020297.4:c.4332A>G MANE Select NP_064693.2:p.Glu1444=
ENST00000261200.9:c.4332A>G MANE Select ENSP00000261200.4:p.Glu1444=
NM_001377273.1:c.4332A>G NP_001364202.1:p.Glu1444=
NM_001377274.1:c.3465A>G NP_001364203.1:p.Glu1155=
NM_005691.3:c.4332A>G NP_005682.2:p.Glu1444=
NM_005691.4:c.4332A>G NP_005682.2:p.Glu1444=
NM_020297.3:c.4332A>G NP_064693.2:p.Glu1444=
ENST00000261200.8:c.4332A>G ENSP00000261200.4:p.Glu1444=
ENST00000261201.10:c.4332A>G ENSP00000261201.4:p.Glu1444=
ENST00000261201.8:c.4332A>G ENSP00000261201.4:p.Glu1444=
ENST00000261201.9:c.4332A>G ENSP00000261201.4:p.Glu1444=
ENST00000544039.5:c.3213A>G ENSP00000440521.1:p.Glu1071=
ENST00000682426.1:n.1909A>G
ENST00000682879.1:c.*3430A>G ENSP00000508210.1:n.*3430A>G
ENST00000683105.1:c.*356A>G ENSP00000506801.1:n.*356A>G
ENST00000683676.1:c.4211+4586A>G ENSP00000508167.1:n.4211+4586A>G
ENST00000683695.1:n.797A>G
ENST00000684084.1:c.4281A>G ENSP00000507859.1:p.Glu1427=
XM_005253284.2:c.4332A>G XP_005253341.1:p.Glu1444=
XM_005253284.4:c.4332A>G XP_005253341.1:p.Glu1444=
XM_005253286.2:c.4332A>G XP_005253343.1:p.Glu1444=
XM_005253286.4:c.4332A>G XP_005253343.1:p.Glu1444=
XM_005253287.3:c.4332A>G XP_005253344.1:p.Glu1444=
XM_005253287.5:c.4332A>G XP_005253344.1:p.Glu1444=
XM_005253288.2:c.4332A>G XP_005253345.1:p.Glu1444=
XM_005253288.4:c.4332A>G XP_005253345.1:p.Glu1444=
XM_005253289.2:c.4293A>G XP_005253346.1:p.Glu1431=
XM_005253289.4:c.4293A>G XP_005253346.1:p.Glu1431=
XM_005253290.2:c.4191A>G XP_005253347.1:p.Glu1397=
XM_005253290.4:c.4191A>G XP_005253347.1:p.Glu1397=
XM_006719025.2:c.4293A>G XP_006719088.1:p.Glu1431=
XM_006719025.4:c.4293A>G XP_006719088.1:p.Glu1431=
XM_011520545.1:c.4332A>G XP_011518847.1:p.Glu1444=
XM_011520545.3:c.4332A>G XP_011518847.1:p.Glu1444=
XR_931420.1:n.632-19747T>C
XR_931420.3:n.632-19747T>C
XR_931421.1:n.632-19747T>C
XR_931422.1:n.306-19747T>C
XR_931422.2:n.318-19747T>C