Canonical Allele Identifier: CA413706947

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520796G>A , CM000685.2:g.77520796G>A	GRCh38
NC_000023.10:g.76776274G>A , CM000685.1:g.76776274G>A	GRCh37
NC_000023.9:g.76662930G>A	NCBI36
NG_008838.2:g.270426C>T
NG_008838.3:g.270474C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.7192C>T MANE Select	NP_000480.3:p.Gln2398Ter
ENST00000373344.11:c.7192C>T MANE Select	ENSP00000362441.4:p.Gln2398Ter
NM_000489.4:c.7192C>T	NP_000480.3:p.Gln2398Ter
NM_000489.5:c.7192C>T	NP_000480.3:p.Gln2398Ter
NM_138270.3:c.7078C>T	NP_612114.2:p.Gln2360Ter
NM_138270.4:c.7078C>T	NP_612114.2:p.Gln2360Ter
NM_138270.5:c.7078C>T	NP_612114.2:p.Gln2360Ter
ENST00000373344.9:c.7192C>T	ENSP00000362441.4:p.Gln2398Ter
ENST00000395603.7:c.7078C>T	ENSP00000378967.3:p.Gln2360Ter
ENST00000480283.5:c.*6820C>T	ENSP00000480196.1:n.*6820C>T
ENST00000623706.3:n.5512C>T
ENST00000624766.1:n.423C>T
ENST00000675732.1:c.2290C>T	ENSP00000502598.1:p.Gln764Ter
XM_005262153.3:c.7189C>T	XP_005262210.2:p.Gln2397Ter
XM_005262153.5:c.7189C>T	XP_005262210.2:p.Gln2397Ter
XM_005262154.3:c.7105C>T	XP_005262211.2:p.Gln2369Ter
XM_005262154.5:c.7105C>T	XP_005262211.2:p.Gln2369Ter
XM_005262155.3:c.7075C>T	XP_005262212.2:p.Gln2359Ter
XM_005262155.4:c.7075C>T	XP_005262212.2:p.Gln2359Ter
XM_005262156.3:c.7027C>T	XP_005262213.2:p.Gln2343Ter
XM_005262156.4:c.7027C>T	XP_005262213.2:p.Gln2343Ter
XM_005262157.3:c.6988C>T	XP_005262214.2:p.Gln2330Ter
XM_005262157.5:c.6988C>T	XP_005262214.2:p.Gln2330Ter
XM_006724666.2:c.7075C>T	XP_006724729.1:p.Gln2359Ter
XM_006724666.4:c.7075C>T	XP_006724729.1:p.Gln2359Ter
XM_006724667.2:c.6913C>T	XP_006724730.1:p.Gln2305Ter
XM_006724667.3:c.6913C>T	XP_006724730.1:p.Gln2305Ter
XM_017029601.2:c.7102C>T	XP_016885090.1:p.Gln2368Ter
XM_017029602.1:c.7072C>T	XP_016885091.1:p.Gln2358Ter
XM_017029603.1:c.7024C>T	XP_016885092.1:p.Gln2342Ter
XM_017029604.2:c.6991C>T	XP_016885093.1:p.Gln2331Ter
XM_017029605.1:c.6988C>T	XP_016885094.1:p.Gln2330Ter
XM_017029606.2:c.6961C>T	XP_016885095.1:p.Gln2321Ter
XM_017029607.2:c.6958C>T	XP_016885096.1:p.Gln2320Ter
XM_017029608.2:c.6910C>T	XP_016885097.1:p.Gln2304Ter
XM_017029609.1:c.6874C>T	XP_016885098.1:p.Gln2292Ter
XM_017029610.1:c.6871C>T	XP_016885099.1:p.Gln2291Ter
XM_017029611.1:c.6826C>T	XP_016885100.1:p.Gln2276Ter
XR_001755700.2:n.7491C>T
XR_938400.1:n.8784C>T