Canonical Allele Identifier: CA413704715

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764020G>T (hg19) ; chrX:g.77508542G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508542G>T , CM000685.2:g.77508542G>T	GRCh38
NC_000023.10:g.76764020G>T , CM000685.1:g.76764020G>T	GRCh37
NC_000023.9:g.76650676G>T	NCBI36
NG_008838.2:g.282680C>A
NG_008838.3:g.282728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7288C>A MANE Select	ENSP00000362441.4:p.Gln2430Lys
ENST00000675732.1:c.2386C>A	ENSP00000502598.1:p.Gln796Lys
ENST00000373344.9:c.7288C>A	ENSP00000362441.4:p.Gln2430Lys
ENST00000395603.7:c.7174C>A	ENSP00000378967.3:p.Gln2392Lys
ENST00000480283.5:c.*6916C>A	ENSP00000480196.1:n.*6916C>A
ENST00000623706.3:n.5608C>A
ENST00000624766.1:n.519C>A
NM_000489.4:c.7288C>A	NP_000480.3:p.Gln2430Lys
NM_138270.3:c.7174C>A	NP_612114.2:p.Gln2392Lys
XM_005262153.3:c.7285C>A	XP_005262210.2:p.Gln2429Lys
XM_005262154.3:c.7201C>A	XP_005262211.2:p.Gln2401Lys
XM_005262155.3:c.7171C>A	XP_005262212.2:p.Gln2391Lys
XM_005262156.3:c.7123C>A	XP_005262213.2:p.Gln2375Lys
XM_005262157.3:c.7084C>A	XP_005262214.2:p.Gln2362Lys
XM_006724666.2:c.7171C>A	XP_006724729.1:p.Gln2391Lys
XM_006724667.2:c.7009C>A	XP_006724730.1:p.Gln2337Lys
XR_938400.1:n.8880C>A
NM_000489.5:c.7288C>A	NP_000480.3:p.Gln2430Lys
XM_005262153.5:c.7285C>A	XP_005262210.2:p.Gln2429Lys
XM_005262154.5:c.7201C>A	XP_005262211.2:p.Gln2401Lys
XM_005262155.4:c.7171C>A	XP_005262212.2:p.Gln2391Lys
XM_005262156.4:c.7123C>A	XP_005262213.2:p.Gln2375Lys
XM_005262157.5:c.7084C>A	XP_005262214.2:p.Gln2362Lys
XM_006724666.4:c.7171C>A	XP_006724729.1:p.Gln2391Lys
XM_006724667.3:c.7009C>A	XP_006724730.1:p.Gln2337Lys
XM_017029601.2:c.7198C>A	XP_016885090.1:p.Gln2400Lys
XM_017029602.1:c.7168C>A	XP_016885091.1:p.Gln2390Lys
XM_017029603.1:c.7120C>A	XP_016885092.1:p.Gln2374Lys
XM_017029604.2:c.7087C>A	XP_016885093.1:p.Gln2363Lys
XM_017029605.1:c.7084C>A	XP_016885094.1:p.Gln2362Lys
XM_017029606.2:c.7057C>A	XP_016885095.1:p.Gln2353Lys
XM_017029607.2:c.7054C>A	XP_016885096.1:p.Gln2352Lys
XM_017029608.2:c.7006C>A	XP_016885097.1:p.Gln2336Lys
XM_017029609.1:c.6970C>A	XP_016885098.1:p.Gln2324Lys
XM_017029610.1:c.6967C>A	XP_016885099.1:p.Gln2323Lys
XM_017029611.1:c.6922C>A	XP_016885100.1:p.Gln2308Lys
XR_001755700.2:n.7587C>A
NM_138270.4:c.7174C>A	NP_612114.2:p.Gln2392Lys
NM_000489.6:c.7288C>A MANE Select	NP_000480.3:p.Gln2430Lys
NM_138270.5:c.7174C>A	NP_612114.2:p.Gln2392Lys