Canonical Allele Identifier: CA2021312135
Community Standard Title: NM_020297.4(ABCC9):c.3346C= (p.Arg1116=)
Gene: ABCC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21842441G= , CM000674.2:g.21842441G= GRCh38
NC_000012.11:g.21995375G= , CM000674.1:g.21995375G= GRCh37
NC_000012.10:g.21886642G= NCBI36
NG_012819.1:g.99254C= , LRG_377:g.99254C=

Transcript Alleles

HGVS Amino-acid Change
NM_020297.4:c.3346C= MANE Select NP_064693.2:p.Arg1116=
ENST00000261200.9:c.3346C= MANE Select ENSP00000261200.4:p.Arg1116=
NM_001377273.1:c.3346C= NP_001364202.1:p.Arg1116=
NM_001377274.1:c.2479C= NP_001364203.1:p.Arg827=
NM_005691.3:c.3346C= NP_005682.2:p.Arg1116=
NM_005691.4:c.3346C= NP_005682.2:p.Arg1116=
NM_020297.3:c.3346C= NP_064693.2:p.Arg1116=
ENST00000261200.8:c.3346C= ENSP00000261200.4:p.Arg1116=
ENST00000261201.10:c.3346C= ENSP00000261201.4:p.Arg1116=
ENST00000261201.8:c.3346C= ENSP00000261201.4:p.Arg1116=
ENST00000261201.9:c.3346C= ENSP00000261201.4:p.Arg1116=
ENST00000544039.5:c.2227C= ENSP00000440521.1:p.Arg743=
ENST00000682068.1:c.3346C= ENSP00000507226.1:p.Arg1116=
ENST00000682426.1:n.923C=
ENST00000682879.1:c.*2444C= ENSP00000508210.1:n.*2444C=
ENST00000683105.1:c.3346C= ENSP00000506801.1:p.Arg1116=
ENST00000683676.1:c.3346C= ENSP00000508167.1:p.Arg1116=
ENST00000683811.1:n.2847C=
ENST00000684084.1:c.3295C= ENSP00000507859.1:p.Arg1099=
XM_005253284.2:c.3346C= XP_005253341.1:p.Arg1116=
XM_005253284.4:c.3346C= XP_005253341.1:p.Arg1116=
XM_005253286.2:c.3346C= XP_005253343.1:p.Arg1116=
XM_005253286.4:c.3346C= XP_005253343.1:p.Arg1116=
XM_005253287.3:c.3346C= XP_005253344.1:p.Arg1116=
XM_005253287.5:c.3346C= XP_005253344.1:p.Arg1116=
XM_005253288.2:c.3346C= XP_005253345.1:p.Arg1116=
XM_005253288.4:c.3346C= XP_005253345.1:p.Arg1116=
XM_005253289.2:c.3307C= XP_005253346.1:p.Arg1103=
XM_005253289.4:c.3307C= XP_005253346.1:p.Arg1103=
XM_005253290.2:c.3205C= XP_005253347.1:p.Arg1069=
XM_005253290.4:c.3205C= XP_005253347.1:p.Arg1069=
XM_006719025.2:c.3307C= XP_006719088.1:p.Arg1103=
XM_006719025.4:c.3307C= XP_006719088.1:p.Arg1103=
XM_011520545.1:c.3346C= XP_011518847.1:p.Arg1116=
XM_011520545.3:c.3346C= XP_011518847.1:p.Arg1116=