Canonical Allele Identifier: CA413703555

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763864T>C (hg19) ; chrX:g.77508386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508386T>C , CM000685.2:g.77508386T>C	GRCh38
NC_000023.10:g.76763864T>C , CM000685.1:g.76763864T>C	GRCh37
NC_000023.9:g.76650520T>C	NCBI36
NG_008838.2:g.282836A>G
NG_008838.3:g.282884A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7444A>G MANE Select	ENSP00000362441.4:p.Lys2482Glu
ENST00000675732.1:c.2542A>G	ENSP00000502598.1:p.Lys848Glu
ENST00000373344.9:c.7444A>G	ENSP00000362441.4:p.Lys2482Glu
ENST00000395603.7:c.7330A>G	ENSP00000378967.3:p.Lys2444Glu
ENST00000480283.5:c.*7072A>G	ENSP00000480196.1:n.*7072A>G
ENST00000623706.3:n.5764A>G
NM_000489.4:c.7444A>G	NP_000480.3:p.Lys2482Glu
NM_138270.3:c.7330A>G	NP_612114.2:p.Lys2444Glu
XM_005262153.3:c.7441A>G	XP_005262210.2:p.Lys2481Glu
XM_005262154.3:c.7357A>G	XP_005262211.2:p.Lys2453Glu
XM_005262155.3:c.7327A>G	XP_005262212.2:p.Lys2443Glu
XM_005262156.3:c.7279A>G	XP_005262213.2:p.Lys2427Glu
XM_005262157.3:c.7240A>G	XP_005262214.2:p.Lys2414Glu
XM_006724666.2:c.7327A>G	XP_006724729.1:p.Lys2443Glu
XM_006724667.2:c.7165A>G	XP_006724730.1:p.Lys2389Glu
XR_938400.1:n.9036A>G
NM_000489.5:c.7444A>G	NP_000480.3:p.Lys2482Glu
XM_005262153.5:c.7441A>G	XP_005262210.2:p.Lys2481Glu
XM_005262154.5:c.7357A>G	XP_005262211.2:p.Lys2453Glu
XM_005262155.4:c.7327A>G	XP_005262212.2:p.Lys2443Glu
XM_005262156.4:c.7279A>G	XP_005262213.2:p.Lys2427Glu
XM_005262157.5:c.7240A>G	XP_005262214.2:p.Lys2414Glu
XM_006724666.4:c.7327A>G	XP_006724729.1:p.Lys2443Glu
XM_006724667.3:c.7165A>G	XP_006724730.1:p.Lys2389Glu
XM_017029601.2:c.7354A>G	XP_016885090.1:p.Lys2452Glu
XM_017029602.1:c.7324A>G	XP_016885091.1:p.Lys2442Glu
XM_017029603.1:c.7276A>G	XP_016885092.1:p.Lys2426Glu
XM_017029604.2:c.7243A>G	XP_016885093.1:p.Lys2415Glu
XM_017029605.1:c.7240A>G	XP_016885094.1:p.Lys2414Glu
XM_017029606.2:c.7213A>G	XP_016885095.1:p.Lys2405Glu
XM_017029607.2:c.7210A>G	XP_016885096.1:p.Lys2404Glu
XM_017029608.2:c.7162A>G	XP_016885097.1:p.Lys2388Glu
XM_017029609.1:c.7126A>G	XP_016885098.1:p.Lys2376Glu
XM_017029610.1:c.7123A>G	XP_016885099.1:p.Lys2375Glu
XM_017029611.1:c.7078A>G	XP_016885100.1:p.Lys2360Glu
XR_001755700.2:n.7743A>G
NM_138270.4:c.7330A>G	NP_612114.2:p.Lys2444Glu
NM_000489.6:c.7444A>G MANE Select	NP_000480.3:p.Lys2482Glu
NM_138270.5:c.7330A>G	NP_612114.2:p.Lys2444Glu