Canonical Allele Identifier: CA384118977

Gene: ABCC9

Linked Data

• MyVariant Identifiers: chr12:g.21997828T>G (hg19) ; chr12:g.21844894T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21844894T>G , CM000674.2:g.21844894T>G	GRCh38
NC_000012.11:g.21997828T>G , CM000674.1:g.21997828T>G	GRCh37
NC_000012.10:g.21889095T>G	NCBI36
NG_012819.1:g.96801A>C , LRG_377:g.96801A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261201.10:c.3118A>C	ENSP00000261201.4:p.Ser1040Arg
ENST00000682068.1:c.3118A>C	ENSP00000507226.1:p.Ser1040Arg
ENST00000682426.1:n.695A>C
ENST00000682879.1:c.*2216A>C	ENSP00000508210.1:n.*2216A>C
ENST00000683105.1:c.3118A>C	ENSP00000506801.1:p.Ser1040Arg
ENST00000683676.1:c.3118A>C	ENSP00000508167.1:p.Ser1040Arg
ENST00000683811.1:n.2619A>C
ENST00000684084.1:c.3067A>C	ENSP00000507859.1:p.Ser1023Arg
ENST00000261200.9:c.3118A>C MANE Select	ENSP00000261200.4:p.Ser1040Arg
ENST00000261201.9:c.3118A>C	ENSP00000261201.4:p.Ser1040Arg
ENST00000261200.8:c.3118A>C	ENSP00000261200.4:p.Ser1040Arg
ENST00000261201.8:c.3118A>C	ENSP00000261201.4:p.Ser1040Arg
ENST00000544039.5:c.1999A>C	ENSP00000440521.1:p.Ser667Arg
NM_005691.3:c.3118A>C	NP_005682.2:p.Ser1040Arg
NM_020297.3:c.3118A>C	NP_064693.2:p.Ser1040Arg
XM_005253284.2:c.3118A>C	XP_005253341.1:p.Ser1040Arg
XM_005253286.2:c.3118A>C	XP_005253343.1:p.Ser1040Arg
XM_005253287.3:c.3118A>C	XP_005253344.1:p.Ser1040Arg
XM_005253288.2:c.3118A>C	XP_005253345.1:p.Ser1040Arg
XM_005253289.2:c.3079A>C	XP_005253346.1:p.Ser1027Arg
XM_005253290.2:c.2977A>C	XP_005253347.1:p.Ser993Arg
XM_006719025.2:c.3079A>C	XP_006719088.1:p.Ser1027Arg
XM_011520545.1:c.3118A>C	XP_011518847.1:p.Ser1040Arg
XM_005253284.4:c.3118A>C	XP_005253341.1:p.Ser1040Arg
XM_005253286.4:c.3118A>C	XP_005253343.1:p.Ser1040Arg
XM_005253287.5:c.3118A>C	XP_005253344.1:p.Ser1040Arg
XM_005253288.4:c.3118A>C	XP_005253345.1:p.Ser1040Arg
XM_005253289.4:c.3079A>C	XP_005253346.1:p.Ser1027Arg
XM_005253290.4:c.2977A>C	XP_005253347.1:p.Ser993Arg
XM_006719025.4:c.3079A>C	XP_006719088.1:p.Ser1027Arg
XM_011520545.3:c.3118A>C	XP_011518847.1:p.Ser1040Arg
NM_001377273.1:c.3118A>C	NP_001364202.1:p.Ser1040Arg
NM_001377274.1:c.2251A>C	NP_001364203.1:p.Ser751Arg
NM_005691.4:c.3118A>C	NP_005682.2:p.Ser1040Arg
NM_020297.4:c.3118A>C MANE Select	NP_064693.2:p.Ser1040Arg