Canonical Allele Identifier: CA2438965147

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77616737T>C , CM000685.2:g.77616737T>C	GRCh38
NC_000023.10:g.76872205T>C , CM000685.1:g.76872205T>C	GRCh37
NC_000023.9:g.76758861T>C	NCBI36
NG_008838.2:g.174485A>G
NG_008838.3:g.174533A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5449-7A>G MANE Select	NP_000480.3:n.5449-7A>G
ENST00000373344.11:c.5449-7A>G MANE Select	ENSP00000362441.4:n.5449-7A>G
NM_000489.4:c.5449-7A>G	NP_000480.3:n.5449-7A>G
NM_000489.5:c.5449-7A>G	NP_000480.3:n.5449-7A>G
NM_138270.3:c.5335-7A>G	NP_612114.2:n.5335-7A>G
NM_138270.4:c.5335-7A>G	NP_612114.2:n.5335-7A>G
NM_138270.5:c.5335-7A>G	NP_612114.2:n.5335-7A>G
ENST00000373344.9:c.5449-7A>G	ENSP00000362441.4:n.5449-7A>G
ENST00000395603.7:c.5335-7A>G	ENSP00000378967.3:n.5335-7A>G
ENST00000400866.4:c.430-7A>G	ENSP00000383663.3:n.430-7A>G
ENST00000480283.5:c.*5077-7A>G	ENSP00000480196.1:n.*5077-7A>G
ENST00000675732.1:c.547-7A>G	ENSP00000502598.1:n.547-7A>G
ENST00000675908.1:n.1184-7A>G
XM_005262153.3:c.5446-7A>G	XP_005262210.2:n.5446-7A>G
XM_005262153.5:c.5446-7A>G	XP_005262210.2:n.5446-7A>G
XM_005262154.3:c.5362-7A>G	XP_005262211.2:n.5362-7A>G
XM_005262154.5:c.5362-7A>G	XP_005262211.2:n.5362-7A>G
XM_005262155.3:c.5332-7A>G	XP_005262212.2:n.5332-7A>G
XM_005262155.4:c.5332-7A>G	XP_005262212.2:n.5332-7A>G
XM_005262156.3:c.5284-7A>G	XP_005262213.2:n.5284-7A>G
XM_005262156.4:c.5284-7A>G	XP_005262213.2:n.5284-7A>G
XM_005262157.3:c.5245-7A>G	XP_005262214.2:n.5245-7A>G
XM_005262157.5:c.5245-7A>G	XP_005262214.2:n.5245-7A>G
XM_006724666.2:c.5332-7A>G	XP_006724729.1:n.5332-7A>G
XM_006724666.4:c.5332-7A>G	XP_006724729.1:n.5332-7A>G
XM_006724667.2:c.5170-7A>G	XP_006724730.1:n.5170-7A>G
XM_006724667.3:c.5170-7A>G	XP_006724730.1:n.5170-7A>G
XM_006724668.2:c.5449-7A>G	XP_006724731.1:n.5449-7A>G
XM_006724668.3:c.5449-7A>G	XP_006724731.1:n.5449-7A>G
XM_017029601.2:c.5359-7A>G	XP_016885090.1:n.5359-7A>G
XM_017029602.1:c.5329-7A>G	XP_016885091.1:n.5329-7A>G
XM_017029603.1:c.5281-7A>G	XP_016885092.1:n.5281-7A>G
XM_017029604.2:c.5248-7A>G	XP_016885093.1:n.5248-7A>G
XM_017029605.1:c.5245-7A>G	XP_016885094.1:n.5245-7A>G
XM_017029606.2:c.5218-7A>G	XP_016885095.1:n.5218-7A>G
XM_017029607.2:c.5215-7A>G	XP_016885096.1:n.5215-7A>G
XM_017029608.2:c.5167-7A>G	XP_016885097.1:n.5167-7A>G
XM_017029609.1:c.5131-7A>G	XP_016885098.1:n.5131-7A>G
XM_017029610.1:c.5128-7A>G	XP_016885099.1:n.5128-7A>G
XM_017029611.1:c.5083-7A>G	XP_016885100.1:n.5083-7A>G
XR_001755700.2:n.5674-7A>G
XR_938400.1:n.5717-7A>G