Canonical Allele Identifier: CA384118976

Gene: ABCC9

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261201.10:c.3118A>G	ENSP00000261201.4:p.Ser1040Gly
ENST00000682068.1:c.3118A>G	ENSP00000507226.1:p.Ser1040Gly
ENST00000682426.1:n.695A>G
ENST00000682879.1:c.*2216A>G	ENSP00000508210.1:n.*2216A>G
ENST00000683105.1:c.3118A>G	ENSP00000506801.1:p.Ser1040Gly
ENST00000683676.1:c.3118A>G	ENSP00000508167.1:p.Ser1040Gly
ENST00000683811.1:n.2619A>G
ENST00000684084.1:c.3067A>G	ENSP00000507859.1:p.Ser1023Gly
ENST00000261200.9:c.3118A>G MANE Select	ENSP00000261200.4:p.Ser1040Gly
ENST00000261201.9:c.3118A>G	ENSP00000261201.4:p.Ser1040Gly
ENST00000261200.8:c.3118A>G	ENSP00000261200.4:p.Ser1040Gly
ENST00000261201.8:c.3118A>G	ENSP00000261201.4:p.Ser1040Gly
ENST00000544039.5:c.1999A>G	ENSP00000440521.1:p.Ser667Gly
NM_005691.3:c.3118A>G	NP_005682.2:p.Ser1040Gly
NM_020297.3:c.3118A>G	NP_064693.2:p.Ser1040Gly
XM_005253284.2:c.3118A>G	XP_005253341.1:p.Ser1040Gly
XM_005253286.2:c.3118A>G	XP_005253343.1:p.Ser1040Gly
XM_005253287.3:c.3118A>G	XP_005253344.1:p.Ser1040Gly
XM_005253288.2:c.3118A>G	XP_005253345.1:p.Ser1040Gly
XM_005253289.2:c.3079A>G	XP_005253346.1:p.Ser1027Gly
XM_005253290.2:c.2977A>G	XP_005253347.1:p.Ser993Gly
XM_006719025.2:c.3079A>G	XP_006719088.1:p.Ser1027Gly
XM_011520545.1:c.3118A>G	XP_011518847.1:p.Ser1040Gly
XM_005253284.4:c.3118A>G	XP_005253341.1:p.Ser1040Gly
XM_005253286.4:c.3118A>G	XP_005253343.1:p.Ser1040Gly
XM_005253287.5:c.3118A>G	XP_005253344.1:p.Ser1040Gly
XM_005253288.4:c.3118A>G	XP_005253345.1:p.Ser1040Gly
XM_005253289.4:c.3079A>G	XP_005253346.1:p.Ser1027Gly
XM_005253290.4:c.2977A>G	XP_005253347.1:p.Ser993Gly
XM_006719025.4:c.3079A>G	XP_006719088.1:p.Ser1027Gly
XM_011520545.3:c.3118A>G	XP_011518847.1:p.Ser1040Gly
NM_001377273.1:c.3118A>G	NP_001364202.1:p.Ser1040Gly
NM_001377274.1:c.2251A>G	NP_001364203.1:p.Ser751Gly
NM_005691.4:c.3118A>G	NP_005682.2:p.Ser1040Gly
NM_020297.4:c.3118A>G MANE Select	NP_064693.2:p.Ser1040Gly