Canonical Allele Identifier: CA2021292843
Community Standard Title: NM_020297.4(ABCC9):c.2815C= (p.Arg939=)
Gene: ABCC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21848201G= , CM000674.2:g.21848201G= GRCh38
NC_000012.11:g.22001135G= , CM000674.1:g.22001135G= GRCh37
NC_000012.10:g.21892402G= NCBI36
NG_012819.1:g.93494C= , LRG_377:g.93494C=

Transcript Alleles

HGVS Amino-acid Change
NM_020297.4:c.2815C= MANE Select NP_064693.2:p.Arg939=
ENST00000261200.9:c.2815C= MANE Select ENSP00000261200.4:p.Arg939=
NM_001377273.1:c.2815C= NP_001364202.1:p.Arg939=
NM_001377274.1:c.1948C= NP_001364203.1:p.Arg650=
NM_005691.3:c.2815C= NP_005682.2:p.Arg939=
NM_005691.4:c.2815C= NP_005682.2:p.Arg939=
NM_020297.3:c.2815C= NP_064693.2:p.Arg939=
ENST00000261200.8:c.2815C= ENSP00000261200.4:p.Arg939=
ENST00000261201.10:c.2815C= ENSP00000261201.4:p.Arg939=
ENST00000261201.8:c.2815C= ENSP00000261201.4:p.Arg939=
ENST00000261201.9:c.2815C= ENSP00000261201.4:p.Arg939=
ENST00000544039.5:c.1696C= ENSP00000440521.1:p.Arg566=
ENST00000682068.1:c.2815C= ENSP00000507226.1:p.Arg939=
ENST00000682426.1:n.392C=
ENST00000682879.1:c.*1913C= ENSP00000508210.1:n.*1913C=
ENST00000683105.1:c.2815C= ENSP00000506801.1:p.Arg939=
ENST00000683676.1:c.2815C= ENSP00000508167.1:p.Arg939=
ENST00000683811.1:n.2316C=
ENST00000684084.1:c.2764C= ENSP00000507859.1:p.Arg922=
XM_005253284.2:c.2815C= XP_005253341.1:p.Arg939=
XM_005253284.4:c.2815C= XP_005253341.1:p.Arg939=
XM_005253286.2:c.2815C= XP_005253343.1:p.Arg939=
XM_005253286.4:c.2815C= XP_005253343.1:p.Arg939=
XM_005253287.3:c.2815C= XP_005253344.1:p.Arg939=
XM_005253287.5:c.2815C= XP_005253344.1:p.Arg939=
XM_005253288.2:c.2815C= XP_005253345.1:p.Arg939=
XM_005253288.4:c.2815C= XP_005253345.1:p.Arg939=
XM_005253289.2:c.2776C= XP_005253346.1:p.Arg926=
XM_005253289.4:c.2776C= XP_005253346.1:p.Arg926=
XM_005253290.2:c.2674C= XP_005253347.1:p.Arg892=
XM_005253290.4:c.2674C= XP_005253347.1:p.Arg892=
XM_006719025.2:c.2776C= XP_006719088.1:p.Arg926=
XM_006719025.4:c.2776C= XP_006719088.1:p.Arg926=
XM_011520545.1:c.2815C= XP_011518847.1:p.Arg939=
XM_011520545.3:c.2815C= XP_011518847.1:p.Arg939=