Canonical Allele Identifier: CA260091
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 35535
ClinVar RCV Id: RCV000029190
dbSNP Id: rs387907229

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21845641A>G , CM000674.2:g.21845641A>G GRCh38
NC_000012.11:g.21998575A>G , CM000674.1:g.21998575A>G GRCh37
NC_000012.10:g.21889842A>G NCBI36
NG_012819.1:g.96054T>C , LRG_377:g.96054T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261201.10:c.3058T>C ENSP00000261201.4:p.Ser1020Pro
ENST00000682068.1:c.3058T>C ENSP00000507226.1:p.Ser1020Pro
ENST00000682426.1:n.635T>C
ENST00000682879.1:c.*2156T>C ENSP00000508210.1:n.*2156T>C
ENST00000683105.1:c.3058T>C ENSP00000506801.1:p.Ser1020Pro
ENST00000683676.1:c.3058T>C ENSP00000508167.1:p.Ser1020Pro
ENST00000683811.1:n.2559T>C
ENST00000684084.1:c.3007T>C ENSP00000507859.1:p.Ser1003Pro
ENST00000261200.9:c.3058T>C MANE Select ENSP00000261200.4:p.Ser1020Pro
ENST00000261201.9:c.3058T>C ENSP00000261201.4:p.Ser1020Pro
ENST00000261200.8:c.3058T>C ENSP00000261200.4:p.Ser1020Pro
ENST00000261201.8:c.3058T>C ENSP00000261201.4:p.Ser1020Pro
ENST00000544039.5:c.1939T>C ENSP00000440521.1:p.Ser647Pro
NM_005691.3:c.3058T>C NP_005682.2:p.Ser1020Pro
NM_020297.3:c.3058T>C NP_064693.2:p.Ser1020Pro
XM_005253284.2:c.3058T>C XP_005253341.1:p.Ser1020Pro
XM_005253286.2:c.3058T>C XP_005253343.1:p.Ser1020Pro
XM_005253287.3:c.3058T>C XP_005253344.1:p.Ser1020Pro
XM_005253288.2:c.3058T>C XP_005253345.1:p.Ser1020Pro
XM_005253289.2:c.3019T>C XP_005253346.1:p.Ser1007Pro
XM_005253290.2:c.2917T>C XP_005253347.1:p.Ser973Pro
XM_006719025.2:c.3019T>C XP_006719088.1:p.Ser1007Pro
XM_011520545.1:c.3058T>C XP_011518847.1:p.Ser1020Pro
XM_005253284.4:c.3058T>C XP_005253341.1:p.Ser1020Pro
XM_005253286.4:c.3058T>C XP_005253343.1:p.Ser1020Pro
XM_005253287.5:c.3058T>C XP_005253344.1:p.Ser1020Pro
XM_005253288.4:c.3058T>C XP_005253345.1:p.Ser1020Pro
XM_005253289.4:c.3019T>C XP_005253346.1:p.Ser1007Pro
XM_005253290.4:c.2917T>C XP_005253347.1:p.Ser973Pro
XM_006719025.4:c.3019T>C XP_006719088.1:p.Ser1007Pro
XM_011520545.3:c.3058T>C XP_011518847.1:p.Ser1020Pro
NM_001377273.1:c.3058T>C NP_001364202.1:p.Ser1020Pro
NM_001377274.1:c.2191T>C NP_001364203.1:p.Ser731Pro
NM_005691.4:c.3058T>C NP_005682.2:p.Ser1020Pro
NM_020297.4:c.3058T>C MANE Select NP_064693.2:p.Ser1020Pro