Canonical Allele Identifier: CA384128618

Gene: ABCC9

Linked Data

• MyVariant Identifiers: chr12:g.21958113T>A (hg19) ; chr12:g.21805179T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21805179T>A , CM000674.2:g.21805179T>A	GRCh38
NC_000012.11:g.21958113T>A , CM000674.1:g.21958113T>A	GRCh37
NC_000012.10:g.21849380T>A	NCBI36
NG_012819.1:g.136516A>T , LRG_377:g.136516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.4645A>T	ENSP00000261201.4:p.Lys1549Ter
ENST00000682426.1:n.2089+819A>T
ENST00000682879.1:c.*3610+819A>T	ENSP00000508210.1:n.*3610+819A>T
ENST00000683105.1:c.*536+819A>T	ENSP00000506801.1:n.*536+819A>T
ENST00000683676.1:c.4212-6041A>T	ENSP00000508167.1:n.4212-6041A>T
ENST00000683695.1:n.977+819A>T
ENST00000684084.1:c.4461+819A>T	ENSP00000507859.1:n.4461+819A>T
ENST00000261200.9:c.4512+819A>T MANE Select	ENSP00000261200.4:n.4512+819A>T
ENST00000261201.9:c.4645A>T	ENSP00000261201.4:p.Lys1549Ter
ENST00000261200.8:c.4512+819A>T	ENSP00000261200.4:n.4512+819A>T
ENST00000261201.8:c.4645A>T	ENSP00000261201.4:p.Lys1549Ter
ENST00000544039.5:c.3526A>T	ENSP00000440521.1:p.Lys1176Ter
NM_005691.3:c.4645A>T	NP_005682.2:p.Lys1549Ter
NM_020297.3:c.4512+819A>T	NP_064693.2:n.4512+819A>T
XM_005253284.2:c.4512+819A>T	XP_005253341.1:n.4512+819A>T
XM_005253286.2:c.4512+819A>T	XP_005253343.1:n.4512+819A>T
XM_005253287.3:c.4645A>T	XP_005253344.1:p.Lys1549Ter
XM_005253288.2:c.4512+819A>T	XP_005253345.1:n.4512+819A>T
XM_005253289.2:c.4473+819A>T	XP_005253346.1:n.4473+819A>T
XM_005253290.2:c.4371+819A>T	XP_005253347.1:n.4371+819A>T
XM_006719025.2:c.4606A>T	XP_006719088.1:p.Lys1536Ter
XM_011520545.1:c.4512+819A>T	XP_011518847.1:n.4512+819A>T
XR_931420.1:n.632-22031T>A
XR_931421.1:n.632-22031T>A
XR_931422.1:n.306-22031T>A
XM_005253284.4:c.4512+819A>T	XP_005253341.1:n.4512+819A>T
XM_005253286.4:c.4512+819A>T	XP_005253343.1:n.4512+819A>T
XM_005253287.5:c.4645A>T	XP_005253344.1:p.Lys1549Ter
XM_005253288.4:c.4512+819A>T	XP_005253345.1:n.4512+819A>T
XM_005253289.4:c.4473+819A>T	XP_005253346.1:n.4473+819A>T
XM_005253290.4:c.4371+819A>T	XP_005253347.1:n.4371+819A>T
XM_006719025.4:c.4606A>T	XP_006719088.1:p.Lys1536Ter
XM_011520545.3:c.4512+819A>T	XP_011518847.1:n.4512+819A>T
XR_931420.3:n.632-22031T>A
XR_931422.2:n.318-22031T>A
NM_001377273.1:c.4512+819A>T	NP_001364202.1:n.4512+819A>T
NM_001377274.1:c.3645+819A>T	NP_001364203.1:n.3645+819A>T
NM_005691.4:c.4645A>T	NP_005682.2:p.Lys1549Ter
NM_020297.4:c.4512+819A>T MANE Select	NP_064693.2:n.4512+819A>T