Canonical Allele Identifier: CA413704947

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764049T>A (hg19) ; chrX:g.77508571T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508571T>A , CM000685.2:g.77508571T>A	GRCh38
NC_000023.10:g.76764049T>A , CM000685.1:g.76764049T>A	GRCh37
NC_000023.9:g.76650705T>A	NCBI36
NG_008838.2:g.282651A>T
NG_008838.3:g.282699A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7259A>T MANE Select	ENSP00000362441.4:p.Gln2420Leu
ENST00000675732.1:c.2357A>T	ENSP00000502598.1:p.Gln786Leu
ENST00000373344.9:c.7259A>T	ENSP00000362441.4:p.Gln2420Leu
ENST00000395603.7:c.7145A>T	ENSP00000378967.3:p.Gln2382Leu
ENST00000480283.5:c.*6887A>T	ENSP00000480196.1:n.*6887A>T
ENST00000623706.3:n.5579A>T
ENST00000624766.1:n.490A>T
NM_000489.4:c.7259A>T	NP_000480.3:p.Gln2420Leu
NM_138270.3:c.7145A>T	NP_612114.2:p.Gln2382Leu
XM_005262153.3:c.7256A>T	XP_005262210.2:p.Gln2419Leu
XM_005262154.3:c.7172A>T	XP_005262211.2:p.Gln2391Leu
XM_005262155.3:c.7142A>T	XP_005262212.2:p.Gln2381Leu
XM_005262156.3:c.7094A>T	XP_005262213.2:p.Gln2365Leu
XM_005262157.3:c.7055A>T	XP_005262214.2:p.Gln2352Leu
XM_006724666.2:c.7142A>T	XP_006724729.1:p.Gln2381Leu
XM_006724667.2:c.6980A>T	XP_006724730.1:p.Gln2327Leu
XR_938400.1:n.8851A>T
NM_000489.5:c.7259A>T	NP_000480.3:p.Gln2420Leu
XM_005262153.5:c.7256A>T	XP_005262210.2:p.Gln2419Leu
XM_005262154.5:c.7172A>T	XP_005262211.2:p.Gln2391Leu
XM_005262155.4:c.7142A>T	XP_005262212.2:p.Gln2381Leu
XM_005262156.4:c.7094A>T	XP_005262213.2:p.Gln2365Leu
XM_005262157.5:c.7055A>T	XP_005262214.2:p.Gln2352Leu
XM_006724666.4:c.7142A>T	XP_006724729.1:p.Gln2381Leu
XM_006724667.3:c.6980A>T	XP_006724730.1:p.Gln2327Leu
XM_017029601.2:c.7169A>T	XP_016885090.1:p.Gln2390Leu
XM_017029602.1:c.7139A>T	XP_016885091.1:p.Gln2380Leu
XM_017029603.1:c.7091A>T	XP_016885092.1:p.Gln2364Leu
XM_017029604.2:c.7058A>T	XP_016885093.1:p.Gln2353Leu
XM_017029605.1:c.7055A>T	XP_016885094.1:p.Gln2352Leu
XM_017029606.2:c.7028A>T	XP_016885095.1:p.Gln2343Leu
XM_017029607.2:c.7025A>T	XP_016885096.1:p.Gln2342Leu
XM_017029608.2:c.6977A>T	XP_016885097.1:p.Gln2326Leu
XM_017029609.1:c.6941A>T	XP_016885098.1:p.Gln2314Leu
XM_017029610.1:c.6938A>T	XP_016885099.1:p.Gln2313Leu
XM_017029611.1:c.6893A>T	XP_016885100.1:p.Gln2298Leu
XR_001755700.2:n.7558A>T
NM_138270.4:c.7145A>T	NP_612114.2:p.Gln2382Leu
NM_000489.6:c.7259A>T MANE Select	NP_000480.3:p.Gln2420Leu
NM_138270.5:c.7145A>T	NP_612114.2:p.Gln2382Leu