Canonical Allele Identifier: CA10457480

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77557520A>G , CM000685.2:g.77557520A>G	GRCh38
NC_000023.10:g.76812991A>G , CM000685.1:g.76812991A>G	GRCh37
NC_000023.9:g.76699647A>G	NCBI36
NG_008838.2:g.233702T>C
NG_008838.3:g.233750T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6630T>C MANE Select	NP_000480.3:p.Phe2210=
ENST00000373344.11:c.6630T>C MANE Select	ENSP00000362441.4:p.Phe2210=
NM_000489.4:c.6630T>C	NP_000480.3:p.Phe2210=
NM_000489.5:c.6630T>C	NP_000480.3:p.Phe2210=
NM_138270.3:c.6516T>C	NP_612114.2:p.Phe2172=
NM_138270.4:c.6516T>C	NP_612114.2:p.Phe2172=
NM_138270.5:c.6516T>C	NP_612114.2:p.Phe2172=
ENST00000373344.9:c.6630T>C	ENSP00000362441.4:p.Phe2210=
ENST00000395603.7:c.6516T>C	ENSP00000378967.3:p.Phe2172=
ENST00000480283.5:c.*6258T>C	ENSP00000480196.1:n.*6258T>C
ENST00000623706.3:n.3700T>C
ENST00000675732.1:c.1728T>C	ENSP00000502598.1:p.Phe576=
XM_005262153.3:c.6627T>C	XP_005262210.2:p.Phe2209=
XM_005262153.5:c.6627T>C	XP_005262210.2:p.Phe2209=
XM_005262154.3:c.6543T>C	XP_005262211.2:p.Phe2181=
XM_005262154.5:c.6543T>C	XP_005262211.2:p.Phe2181=
XM_005262155.3:c.6513T>C	XP_005262212.2:p.Phe2171=
XM_005262155.4:c.6513T>C	XP_005262212.2:p.Phe2171=
XM_005262156.3:c.6465T>C	XP_005262213.2:p.Phe2155=
XM_005262156.4:c.6465T>C	XP_005262213.2:p.Phe2155=
XM_005262157.3:c.6426T>C	XP_005262214.2:p.Phe2142=
XM_005262157.5:c.6426T>C	XP_005262214.2:p.Phe2142=
XM_006724666.2:c.6513T>C	XP_006724729.1:p.Phe2171=
XM_006724666.4:c.6513T>C	XP_006724729.1:p.Phe2171=
XM_006724667.2:c.6351T>C	XP_006724730.1:p.Phe2117=
XM_006724667.3:c.6351T>C	XP_006724730.1:p.Phe2117=
XM_017029601.2:c.6540T>C	XP_016885090.1:p.Phe2180=
XM_017029602.1:c.6510T>C	XP_016885091.1:p.Phe2170=
XM_017029603.1:c.6462T>C	XP_016885092.1:p.Phe2154=
XM_017029604.2:c.6429T>C	XP_016885093.1:p.Phe2143=
XM_017029605.1:c.6426T>C	XP_016885094.1:p.Phe2142=
XM_017029606.2:c.6399T>C	XP_016885095.1:p.Phe2133=
XM_017029607.2:c.6396T>C	XP_016885096.1:p.Phe2132=
XM_017029608.2:c.6348T>C	XP_016885097.1:p.Phe2116=
XM_017029609.1:c.6312T>C	XP_016885098.1:p.Phe2104=
XM_017029610.1:c.6309T>C	XP_016885099.1:p.Phe2103=
XM_017029611.1:c.6264T>C	XP_016885100.1:p.Phe2088=
XR_001755700.2:n.6929T>C
XR_938400.1:n.6972T>C