Canonical Allele Identifier: CA233633317
Gene: ABCC9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1775942
ClinVar RCV Id: RCV002398459
dbSNP Id: rs1054446244

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21906152G>C , CM000674.2:g.21906152G>C GRCh38
NC_000012.11:g.22059086G>C , CM000674.1:g.22059086G>C GRCh37
NC_000012.10:g.21950353G>C NCBI36
NG_012819.1:g.35543C>G , LRG_377:g.35543C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261201.10:c.1592C>G ENSP00000261201.4:p.Thr531Ser
ENST00000682068.1:c.1592C>G ENSP00000507226.1:p.Thr531Ser
ENST00000682789.1:n.1843C>G
ENST00000682879.1:c.*693C>G ENSP00000508210.1:n.*693C>G
ENST00000683105.1:c.1592C>G ENSP00000506801.1:p.Thr531Ser
ENST00000683676.1:c.1592C>G ENSP00000508167.1:p.Thr531Ser
ENST00000684084.1:c.1592C>G ENSP00000507859.1:p.Thr531Ser
ENST00000684543.1:n.1937C>G
ENST00000261200.9:c.1592C>G MANE Select ENSP00000261200.4:p.Thr531Ser
ENST00000261201.9:c.1592C>G ENSP00000261201.4:p.Thr531Ser
ENST00000261200.8:c.1592C>G ENSP00000261200.4:p.Thr531Ser
ENST00000261201.8:c.1592C>G ENSP00000261201.4:p.Thr531Ser
ENST00000544039.5:c.581C>G ENSP00000440521.1:p.Thr194Ser
NM_005691.3:c.1592C>G NP_005682.2:p.Thr531Ser
NM_020297.3:c.1592C>G NP_064693.2:p.Thr531Ser
XM_005253284.2:c.1592C>G XP_005253341.1:p.Thr531Ser
XM_005253286.2:c.1592C>G XP_005253343.1:p.Thr531Ser
XM_005253287.3:c.1592C>G XP_005253344.1:p.Thr531Ser
XM_005253288.2:c.1592C>G XP_005253345.1:p.Thr531Ser
XM_005253289.2:c.1592C>G XP_005253346.1:p.Thr531Ser
XM_005253290.2:c.1592C>G XP_005253347.1:p.Thr531Ser
XM_006719025.2:c.1592C>G XP_006719088.1:p.Thr531Ser
XM_011520545.1:c.1592C>G XP_011518847.1:p.Thr531Ser
XM_005253284.4:c.1592C>G XP_005253341.1:p.Thr531Ser
XM_005253286.4:c.1592C>G XP_005253343.1:p.Thr531Ser
XM_005253287.5:c.1592C>G XP_005253344.1:p.Thr531Ser
XM_005253288.4:c.1592C>G XP_005253345.1:p.Thr531Ser
XM_005253289.4:c.1592C>G XP_005253346.1:p.Thr531Ser
XM_005253290.4:c.1592C>G XP_005253347.1:p.Thr531Ser
XM_006719025.4:c.1592C>G XP_006719088.1:p.Thr531Ser
XM_011520545.3:c.1592C>G XP_011518847.1:p.Thr531Ser
NM_001377273.1:c.1592C>G NP_001364202.1:p.Thr531Ser
NM_001377274.1:c.728C>G NP_001364203.1:p.Thr243Ser
NM_005691.4:c.1592C>G NP_005682.2:p.Thr531Ser
NM_020297.4:c.1592C>G MANE Select NP_064693.2:p.Thr531Ser