Canonical Allele Identifier: CA413707233

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776336T>A (hg19) ; chrX:g.77520858T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520858T>A , CM000685.2:g.77520858T>A	GRCh38
NC_000023.10:g.76776336T>A , CM000685.1:g.76776336T>A	GRCh37
NC_000023.9:g.76662992T>A	NCBI36
NG_008838.2:g.270364A>T
NG_008838.3:g.270412A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7130A>T MANE Select	ENSP00000362441.4:p.Gln2377Leu
ENST00000675732.1:c.2228A>T	ENSP00000502598.1:p.Gln743Leu
ENST00000373344.9:c.7130A>T	ENSP00000362441.4:p.Gln2377Leu
ENST00000395603.7:c.7016A>T	ENSP00000378967.3:p.Gln2339Leu
ENST00000480283.5:c.*6758A>T	ENSP00000480196.1:n.*6758A>T
ENST00000623706.3:n.5450A>T
ENST00000624766.1:n.361A>T
NM_000489.4:c.7130A>T	NP_000480.3:p.Gln2377Leu
NM_138270.3:c.7016A>T	NP_612114.2:p.Gln2339Leu
XM_005262153.3:c.7127A>T	XP_005262210.2:p.Gln2376Leu
XM_005262154.3:c.7043A>T	XP_005262211.2:p.Gln2348Leu
XM_005262155.3:c.7013A>T	XP_005262212.2:p.Gln2338Leu
XM_005262156.3:c.6965A>T	XP_005262213.2:p.Gln2322Leu
XM_005262157.3:c.6926A>T	XP_005262214.2:p.Gln2309Leu
XM_006724666.2:c.7013A>T	XP_006724729.1:p.Gln2338Leu
XM_006724667.2:c.6851A>T	XP_006724730.1:p.Gln2284Leu
XR_938400.1:n.8722A>T
NM_000489.5:c.7130A>T	NP_000480.3:p.Gln2377Leu
XM_005262153.5:c.7127A>T	XP_005262210.2:p.Gln2376Leu
XM_005262154.5:c.7043A>T	XP_005262211.2:p.Gln2348Leu
XM_005262155.4:c.7013A>T	XP_005262212.2:p.Gln2338Leu
XM_005262156.4:c.6965A>T	XP_005262213.2:p.Gln2322Leu
XM_005262157.5:c.6926A>T	XP_005262214.2:p.Gln2309Leu
XM_006724666.4:c.7013A>T	XP_006724729.1:p.Gln2338Leu
XM_006724667.3:c.6851A>T	XP_006724730.1:p.Gln2284Leu
XM_017029601.2:c.7040A>T	XP_016885090.1:p.Gln2347Leu
XM_017029602.1:c.7010A>T	XP_016885091.1:p.Gln2337Leu
XM_017029603.1:c.6962A>T	XP_016885092.1:p.Gln2321Leu
XM_017029604.2:c.6929A>T	XP_016885093.1:p.Gln2310Leu
XM_017029605.1:c.6926A>T	XP_016885094.1:p.Gln2309Leu
XM_017029606.2:c.6899A>T	XP_016885095.1:p.Gln2300Leu
XM_017029607.2:c.6896A>T	XP_016885096.1:p.Gln2299Leu
XM_017029608.2:c.6848A>T	XP_016885097.1:p.Gln2283Leu
XM_017029609.1:c.6812A>T	XP_016885098.1:p.Gln2271Leu
XM_017029610.1:c.6809A>T	XP_016885099.1:p.Gln2270Leu
XM_017029611.1:c.6764A>T	XP_016885100.1:p.Gln2255Leu
XR_001755700.2:n.7429A>T
NM_138270.4:c.7016A>T	NP_612114.2:p.Gln2339Leu
NM_000489.6:c.7130A>T MANE Select	NP_000480.3:p.Gln2377Leu
NM_138270.5:c.7016A>T	NP_612114.2:p.Gln2339Leu