Canonical Allele Identifier: CA10330875

Gene: CSF2RA

Linked Data

• dbSNP Id: rs144461826
• ExAC: X:1409352 G / A
• gnomAD v2: X-1409352-G-A
• gnomAD v3: X-1290459-G-A
• gnomAD v4: X-1290459-G-A
• MyVariant Identifiers: chrX:g.1409352G>A (hg19) ; chrX:g.1290459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.1290459G>A , CM000685.2:g.1290459G>A	GRCh38
NC_000023.10:g.1409352G>A , CM000685.1:g.1409352G>A	GRCh37
NC_000023.9:g.1369352G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000498153.7:c.596G>A	ENSP00000512483.1:p.Arg199Gln
ENST00000696230.1:c.*679G>A	ENSP00000512496.1:n.*679G>A
ENST00000381529.9:c.596G>A MANE Select	ENSP00000370940.3:p.Arg199Gln
ENST00000432318.8:c.596G>A	ENSP00000416437.2:p.Arg199Gln
ENST00000355432.8:c.596G>A	ENSP00000347606.3:p.Arg199Gln
ENST00000355805.7:c.596G>A	ENSP00000348058.2:p.Arg199Gln
ENST00000381500.6:c.596G>A	ENSP00000370911.1:p.Arg199Gln
ENST00000381509.8:c.596G>A	ENSP00000370920.3:p.Arg199Gln
ENST00000381524.8:c.596G>A	ENSP00000370935.3:p.Arg199Gln
ENST00000381529.8:c.596G>A	ENSP00000370940.3:p.Arg199Gln
ENST00000412290.6:c.596G>A	ENSP00000410667.1:p.Arg199Gln
ENST00000417535.7:c.596G>A	ENSP00000394227.2:p.Arg199Gln
ENST00000432318.7:c.596G>A	ENSP00000416437.2:p.Arg199Gln
ENST00000475259.6:n.7G>A
ENST00000486791.6:c.596G>A	ENSP00000436825.1:p.Arg199Gln
ENST00000493312.6:n.633G>A
ENST00000494969.7:c.244+3261G>A	ENSP00000476684.1:n.244+3261G>A
ENST00000501036.7:c.197G>A	ENSP00000440491.1:p.Arg66Gln
XM_011546165.1:c.596G>A	XP_011544467.1:p.Arg199Gln
XM_011546166.1:c.596G>A	XP_011544468.1:p.Arg199Gln
XM_011546167.1:c.596G>A	XP_011544469.1:p.Arg199Gln
XM_011546168.1:c.596G>A	XP_011544470.1:p.Arg199Gln
XM_011546169.1:c.596G>A	XP_011544471.1:p.Arg199Gln
XM_011546170.1:c.596G>A	XP_011544472.1:p.Arg199Gln
XM_011546171.1:c.596G>A	XP_011544473.1:p.Arg199Gln
XM_011546172.1:c.596G>A	XP_011544474.1:p.Arg199Gln
XM_011546173.1:c.596G>A	XP_011544475.1:p.Arg199Gln
XM_011546174.1:c.596G>A	XP_011544476.1:p.Arg199Gln
XM_011546175.1:c.596G>A	XP_011544477.1:p.Arg199Gln
XM_011546176.1:c.464G>A	XP_011544478.1:p.Arg155Gln
XM_011546165.3:c.596G>A	XP_011544467.1:p.Arg199Gln
XM_011546167.2:c.596G>A	XP_011544469.1:p.Arg199Gln
XM_011546168.2:c.596G>A	XP_011544470.1:p.Arg199Gln
XM_011546170.3:c.596G>A	XP_011544472.1:p.Arg199Gln
XM_011546174.3:c.596G>A	XP_011544476.1:p.Arg199Gln
XM_011546175.2:c.596G>A	XP_011544477.1:p.Arg199Gln
XM_017029287.1:c.596G>A	XP_016884776.1:p.Arg199Gln
XM_017029288.1:c.596G>A	XP_016884777.1:p.Arg199Gln