Canonical Allele Identifier: CA384118545
Gene: ABCC9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21844830C>A , CM000674.2:g.21844830C>A GRCh38
NC_000012.11:g.21997764C>A , CM000674.1:g.21997764C>A GRCh37
NC_000012.10:g.21889031C>A NCBI36
NG_012819.1:g.96865G>T , LRG_377:g.96865G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261201.10:c.3182G>T ENSP00000261201.4:p.Gly1061Val
ENST00000682068.1:c.3182G>T ENSP00000507226.1:p.Gly1061Val
ENST00000682426.1:n.759G>T
ENST00000682879.1:c.*2280G>T ENSP00000508210.1:n.*2280G>T
ENST00000683105.1:c.3182G>T ENSP00000506801.1:p.Gly1061Val
ENST00000683676.1:c.3182G>T ENSP00000508167.1:p.Gly1061Val
ENST00000683811.1:n.2683G>T
ENST00000684084.1:c.3131G>T ENSP00000507859.1:p.Gly1044Val
ENST00000261200.9:c.3182G>T MANE Select ENSP00000261200.4:p.Gly1061Val
ENST00000261201.9:c.3182G>T ENSP00000261201.4:p.Gly1061Val
ENST00000261200.8:c.3182G>T ENSP00000261200.4:p.Gly1061Val
ENST00000261201.8:c.3182G>T ENSP00000261201.4:p.Gly1061Val
ENST00000544039.5:c.2063G>T ENSP00000440521.1:p.Gly688Val
NM_005691.3:c.3182G>T NP_005682.2:p.Gly1061Val
NM_020297.3:c.3182G>T NP_064693.2:p.Gly1061Val
XM_005253284.2:c.3182G>T XP_005253341.1:p.Gly1061Val
XM_005253286.2:c.3182G>T XP_005253343.1:p.Gly1061Val
XM_005253287.3:c.3182G>T XP_005253344.1:p.Gly1061Val
XM_005253288.2:c.3182G>T XP_005253345.1:p.Gly1061Val
XM_005253289.2:c.3143G>T XP_005253346.1:p.Gly1048Val
XM_005253290.2:c.3041G>T XP_005253347.1:p.Gly1014Val
XM_006719025.2:c.3143G>T XP_006719088.1:p.Gly1048Val
XM_011520545.1:c.3182G>T XP_011518847.1:p.Gly1061Val
XM_005253284.4:c.3182G>T XP_005253341.1:p.Gly1061Val
XM_005253286.4:c.3182G>T XP_005253343.1:p.Gly1061Val
XM_005253287.5:c.3182G>T XP_005253344.1:p.Gly1061Val
XM_005253288.4:c.3182G>T XP_005253345.1:p.Gly1061Val
XM_005253289.4:c.3143G>T XP_005253346.1:p.Gly1048Val
XM_005253290.4:c.3041G>T XP_005253347.1:p.Gly1014Val
XM_006719025.4:c.3143G>T XP_006719088.1:p.Gly1048Val
XM_011520545.3:c.3182G>T XP_011518847.1:p.Gly1061Val
NM_001377273.1:c.3182G>T NP_001364202.1:p.Gly1061Val
NM_001377274.1:c.2315G>T NP_001364203.1:p.Gly772Val
NM_005691.4:c.3182G>T NP_005682.2:p.Gly1061Val
NM_020297.4:c.3182G>T MANE Select NP_064693.2:p.Gly1061Val