Canonical Allele Identifier: CA413704953

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7259A>C MANE Select	ENSP00000362441.4:p.Gln2420Pro
ENST00000675732.1:c.2357A>C	ENSP00000502598.1:p.Gln786Pro
ENST00000373344.9:c.7259A>C	ENSP00000362441.4:p.Gln2420Pro
ENST00000395603.7:c.7145A>C	ENSP00000378967.3:p.Gln2382Pro
ENST00000480283.5:c.*6887A>C	ENSP00000480196.1:n.*6887A>C
ENST00000623706.3:n.5579A>C
ENST00000624766.1:n.490A>C
NM_000489.4:c.7259A>C	NP_000480.3:p.Gln2420Pro
NM_138270.3:c.7145A>C	NP_612114.2:p.Gln2382Pro
XM_005262153.3:c.7256A>C	XP_005262210.2:p.Gln2419Pro
XM_005262154.3:c.7172A>C	XP_005262211.2:p.Gln2391Pro
XM_005262155.3:c.7142A>C	XP_005262212.2:p.Gln2381Pro
XM_005262156.3:c.7094A>C	XP_005262213.2:p.Gln2365Pro
XM_005262157.3:c.7055A>C	XP_005262214.2:p.Gln2352Pro
XM_006724666.2:c.7142A>C	XP_006724729.1:p.Gln2381Pro
XM_006724667.2:c.6980A>C	XP_006724730.1:p.Gln2327Pro
XR_938400.1:n.8851A>C
NM_000489.5:c.7259A>C	NP_000480.3:p.Gln2420Pro
XM_005262153.5:c.7256A>C	XP_005262210.2:p.Gln2419Pro
XM_005262154.5:c.7172A>C	XP_005262211.2:p.Gln2391Pro
XM_005262155.4:c.7142A>C	XP_005262212.2:p.Gln2381Pro
XM_005262156.4:c.7094A>C	XP_005262213.2:p.Gln2365Pro
XM_005262157.5:c.7055A>C	XP_005262214.2:p.Gln2352Pro
XM_006724666.4:c.7142A>C	XP_006724729.1:p.Gln2381Pro
XM_006724667.3:c.6980A>C	XP_006724730.1:p.Gln2327Pro
XM_017029601.2:c.7169A>C	XP_016885090.1:p.Gln2390Pro
XM_017029602.1:c.7139A>C	XP_016885091.1:p.Gln2380Pro
XM_017029603.1:c.7091A>C	XP_016885092.1:p.Gln2364Pro
XM_017029604.2:c.7058A>C	XP_016885093.1:p.Gln2353Pro
XM_017029605.1:c.7055A>C	XP_016885094.1:p.Gln2352Pro
XM_017029606.2:c.7028A>C	XP_016885095.1:p.Gln2343Pro
XM_017029607.2:c.7025A>C	XP_016885096.1:p.Gln2342Pro
XM_017029608.2:c.6977A>C	XP_016885097.1:p.Gln2326Pro
XM_017029609.1:c.6941A>C	XP_016885098.1:p.Gln2314Pro
XM_017029610.1:c.6938A>C	XP_016885099.1:p.Gln2313Pro
XM_017029611.1:c.6893A>C	XP_016885100.1:p.Gln2298Pro
XR_001755700.2:n.7558A>C
NM_138270.4:c.7145A>C	NP_612114.2:p.Gln2382Pro
NM_000489.6:c.7259A>C MANE Select	NP_000480.3:p.Gln2420Pro
NM_138270.5:c.7145A>C	NP_612114.2:p.Gln2382Pro