Canonical Allele Identifier: CA413710117

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77523358A>G , CM000685.2:g.77523358A>G	GRCh38
NC_000023.10:g.76778836A>G , CM000685.1:g.76778836A>G	GRCh37
NC_000023.9:g.76665492A>G	NCBI36
NG_008838.2:g.267864T>C
NG_008838.3:g.267912T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6743T>C MANE Select	NP_000480.3:p.Ile2248Thr
ENST00000373344.11:c.6743T>C MANE Select	ENSP00000362441.4:p.Ile2248Thr
NM_000489.4:c.6743T>C	NP_000480.3:p.Ile2248Thr
NM_000489.5:c.6743T>C	NP_000480.3:p.Ile2248Thr
NM_138270.3:c.6629T>C	NP_612114.2:p.Ile2210Thr
NM_138270.4:c.6629T>C	NP_612114.2:p.Ile2210Thr
NM_138270.5:c.6629T>C	NP_612114.2:p.Ile2210Thr
ENST00000373344.9:c.6743T>C	ENSP00000362441.4:p.Ile2248Thr
ENST00000395603.7:c.6629T>C	ENSP00000378967.3:p.Ile2210Thr
ENST00000480283.5:c.*6371T>C	ENSP00000480196.1:n.*6371T>C
ENST00000623706.3:n.3813T>C
ENST00000675732.1:c.1841T>C	ENSP00000502598.1:p.Ile614Thr
XM_005262153.3:c.6740T>C	XP_005262210.2:p.Ile2247Thr
XM_005262153.5:c.6740T>C	XP_005262210.2:p.Ile2247Thr
XM_005262154.3:c.6656T>C	XP_005262211.2:p.Ile2219Thr
XM_005262154.5:c.6656T>C	XP_005262211.2:p.Ile2219Thr
XM_005262155.3:c.6626T>C	XP_005262212.2:p.Ile2209Thr
XM_005262155.4:c.6626T>C	XP_005262212.2:p.Ile2209Thr
XM_005262156.3:c.6578T>C	XP_005262213.2:p.Ile2193Thr
XM_005262156.4:c.6578T>C	XP_005262213.2:p.Ile2193Thr
XM_005262157.3:c.6539T>C	XP_005262214.2:p.Ile2180Thr
XM_005262157.5:c.6539T>C	XP_005262214.2:p.Ile2180Thr
XM_006724666.2:c.6626T>C	XP_006724729.1:p.Ile2209Thr
XM_006724666.4:c.6626T>C	XP_006724729.1:p.Ile2209Thr
XM_006724667.2:c.6464T>C	XP_006724730.1:p.Ile2155Thr
XM_006724667.3:c.6464T>C	XP_006724730.1:p.Ile2155Thr
XM_017029601.2:c.6653T>C	XP_016885090.1:p.Ile2218Thr
XM_017029602.1:c.6623T>C	XP_016885091.1:p.Ile2208Thr
XM_017029603.1:c.6575T>C	XP_016885092.1:p.Ile2192Thr
XM_017029604.2:c.6542T>C	XP_016885093.1:p.Ile2181Thr
XM_017029605.1:c.6539T>C	XP_016885094.1:p.Ile2180Thr
XM_017029606.2:c.6512T>C	XP_016885095.1:p.Ile2171Thr
XM_017029607.2:c.6509T>C	XP_016885096.1:p.Ile2170Thr
XM_017029608.2:c.6461T>C	XP_016885097.1:p.Ile2154Thr
XM_017029609.1:c.6425T>C	XP_016885098.1:p.Ile2142Thr
XM_017029610.1:c.6422T>C	XP_016885099.1:p.Ile2141Thr
XM_017029611.1:c.6377T>C	XP_016885100.1:p.Ile2126Thr
XR_001755700.2:n.7042T>C
XR_938400.1:n.7085T>C