Canonical Allele Identifier: CA121662

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77523290T>C , CM000685.2:g.77523290T>C	GRCh38
NC_000023.10:g.76778768T>C , CM000685.1:g.76778768T>C	GRCh37
NC_000023.9:g.76665424T>C	NCBI36
NG_008838.2:g.267932A>G
NG_008838.3:g.267980A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.6811A>G MANE Select	NP_000480.3:p.Arg2271Gly
ENST00000373344.11:c.6811A>G MANE Select	ENSP00000362441.4:p.Arg2271Gly
NM_000489.4:c.6811A>G	NP_000480.3:p.Arg2271Gly
NM_000489.5:c.6811A>G	NP_000480.3:p.Arg2271Gly
NM_138270.3:c.6697A>G	NP_612114.2:p.Arg2233Gly
NM_138270.4:c.6697A>G	NP_612114.2:p.Arg2233Gly
NM_138270.5:c.6697A>G	NP_612114.2:p.Arg2233Gly
ENST00000373344.9:c.6811A>G	ENSP00000362441.4:p.Arg2271Gly
ENST00000395603.7:c.6697A>G	ENSP00000378967.3:p.Arg2233Gly
ENST00000480283.5:c.*6439A>G	ENSP00000480196.1:n.*6439A>G
ENST00000623706.3:n.3881A>G
ENST00000675732.1:c.1909A>G	ENSP00000502598.1:p.Arg637Gly
XM_005262153.3:c.6808A>G	XP_005262210.2:p.Arg2270Gly
XM_005262153.5:c.6808A>G	XP_005262210.2:p.Arg2270Gly
XM_005262154.3:c.6724A>G	XP_005262211.2:p.Arg2242Gly
XM_005262154.5:c.6724A>G	XP_005262211.2:p.Arg2242Gly
XM_005262155.3:c.6694A>G	XP_005262212.2:p.Arg2232Gly
XM_005262155.4:c.6694A>G	XP_005262212.2:p.Arg2232Gly
XM_005262156.3:c.6646A>G	XP_005262213.2:p.Arg2216Gly
XM_005262156.4:c.6646A>G	XP_005262213.2:p.Arg2216Gly
XM_005262157.3:c.6607A>G	XP_005262214.2:p.Arg2203Gly
XM_005262157.5:c.6607A>G	XP_005262214.2:p.Arg2203Gly
XM_006724666.2:c.6694A>G	XP_006724729.1:p.Arg2232Gly
XM_006724666.4:c.6694A>G	XP_006724729.1:p.Arg2232Gly
XM_006724667.2:c.6532A>G	XP_006724730.1:p.Arg2178Gly
XM_006724667.3:c.6532A>G	XP_006724730.1:p.Arg2178Gly
XM_017029601.2:c.6721A>G	XP_016885090.1:p.Arg2241Gly
XM_017029602.1:c.6691A>G	XP_016885091.1:p.Arg2231Gly
XM_017029603.1:c.6643A>G	XP_016885092.1:p.Arg2215Gly
XM_017029604.2:c.6610A>G	XP_016885093.1:p.Arg2204Gly
XM_017029605.1:c.6607A>G	XP_016885094.1:p.Arg2203Gly
XM_017029606.2:c.6580A>G	XP_016885095.1:p.Arg2194Gly
XM_017029607.2:c.6577A>G	XP_016885096.1:p.Arg2193Gly
XM_017029608.2:c.6529A>G	XP_016885097.1:p.Arg2177Gly
XM_017029609.1:c.6493A>G	XP_016885098.1:p.Arg2165Gly
XM_017029610.1:c.6490A>G	XP_016885099.1:p.Arg2164Gly
XM_017029611.1:c.6445A>G	XP_016885100.1:p.Arg2149Gly
XR_001755700.2:n.7110A>G
XR_938400.1:n.7153A>G