Canonical Allele Identifier: CA384137451

Gene: ABCC9

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21818172A>G , CM000674.2:g.21818172A>G	GRCh38
NC_000012.11:g.21971106A>G , CM000674.1:g.21971106A>G	GRCh37
NC_000012.10:g.21862373A>G	NCBI36
NG_012819.1:g.123523T>C , LRG_377:g.123523T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020297.4:c.3749T>C MANE Select	NP_064693.2:p.Leu1250Ser
ENST00000261200.9:c.3749T>C MANE Select	ENSP00000261200.4:p.Leu1250Ser
NM_001377273.1:c.3749T>C	NP_001364202.1:p.Leu1250Ser
NM_001377274.1:c.2882T>C	NP_001364203.1:p.Leu961Ser
NM_005691.3:c.3749T>C	NP_005682.2:p.Leu1250Ser
NM_005691.4:c.3749T>C	NP_005682.2:p.Leu1250Ser
NM_020297.3:c.3749T>C	NP_064693.2:p.Leu1250Ser
ENST00000261200.8:c.3749T>C	ENSP00000261200.4:p.Leu1250Ser
ENST00000261201.10:c.3749T>C	ENSP00000261201.4:p.Leu1250Ser
ENST00000261201.8:c.3749T>C	ENSP00000261201.4:p.Leu1250Ser
ENST00000261201.9:c.3749T>C	ENSP00000261201.4:p.Leu1250Ser
ENST00000544039.5:c.2630T>C	ENSP00000440521.1:p.Leu877Ser
ENST00000682426.1:n.1326T>C
ENST00000682879.1:c.*2847T>C	ENSP00000508210.1:n.*2847T>C
ENST00000683105.1:c.3749T>C	ENSP00000506801.1:p.Leu1250Ser
ENST00000683676.1:c.3749T>C	ENSP00000508167.1:p.Leu1250Ser
ENST00000683695.1:n.214T>C
ENST00000683811.1:n.3250T>C
ENST00000684084.1:c.3698T>C	ENSP00000507859.1:p.Leu1233Ser
XM_005253284.2:c.3749T>C	XP_005253341.1:p.Leu1250Ser
XM_005253284.4:c.3749T>C	XP_005253341.1:p.Leu1250Ser
XM_005253286.2:c.3749T>C	XP_005253343.1:p.Leu1250Ser
XM_005253286.4:c.3749T>C	XP_005253343.1:p.Leu1250Ser
XM_005253287.3:c.3749T>C	XP_005253344.1:p.Leu1250Ser
XM_005253287.5:c.3749T>C	XP_005253344.1:p.Leu1250Ser
XM_005253288.2:c.3749T>C	XP_005253345.1:p.Leu1250Ser
XM_005253288.4:c.3749T>C	XP_005253345.1:p.Leu1250Ser
XM_005253289.2:c.3710T>C	XP_005253346.1:p.Leu1237Ser
XM_005253289.4:c.3710T>C	XP_005253346.1:p.Leu1237Ser
XM_005253290.2:c.3608T>C	XP_005253347.1:p.Leu1203Ser
XM_005253290.4:c.3608T>C	XP_005253347.1:p.Leu1203Ser
XM_006719025.2:c.3710T>C	XP_006719088.1:p.Leu1237Ser
XM_006719025.4:c.3710T>C	XP_006719088.1:p.Leu1237Ser
XM_011520545.1:c.3749T>C	XP_011518847.1:p.Leu1250Ser
XM_011520545.3:c.3749T>C	XP_011518847.1:p.Leu1250Ser
XR_931420.1:n.632-9038A>G
XR_931420.3:n.632-9038A>G
XR_931421.1:n.632-9038A>G
XR_931422.1:n.306-9038A>G
XR_931422.2:n.318-9038A>G