Canonical Allele Identifier: CA413704913

Gene: ATRX

Linked Data

• dbSNP Id: rs2147651623
• MyVariant Identifiers: chrX:g.76764045C>G (hg19) ; chrX:g.77508567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508567C>G , CM000685.2:g.77508567C>G	GRCh38
NC_000023.10:g.76764045C>G , CM000685.1:g.76764045C>G	GRCh37
NC_000023.9:g.76650701C>G	NCBI36
NG_008838.2:g.282655G>C
NG_008838.3:g.282703G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7263G>C MANE Select	ENSP00000362441.4:p.Gln2421His
ENST00000675732.1:c.2361G>C	ENSP00000502598.1:p.Gln787His
ENST00000373344.9:c.7263G>C	ENSP00000362441.4:p.Gln2421His
ENST00000395603.7:c.7149G>C	ENSP00000378967.3:p.Gln2383His
ENST00000480283.5:c.*6891G>C	ENSP00000480196.1:n.*6891G>C
ENST00000623706.3:n.5583G>C
ENST00000624766.1:n.494G>C
NM_000489.4:c.7263G>C	NP_000480.3:p.Gln2421His
NM_138270.3:c.7149G>C	NP_612114.2:p.Gln2383His
XM_005262153.3:c.7260G>C	XP_005262210.2:p.Gln2420His
XM_005262154.3:c.7176G>C	XP_005262211.2:p.Gln2392His
XM_005262155.3:c.7146G>C	XP_005262212.2:p.Gln2382His
XM_005262156.3:c.7098G>C	XP_005262213.2:p.Gln2366His
XM_005262157.3:c.7059G>C	XP_005262214.2:p.Gln2353His
XM_006724666.2:c.7146G>C	XP_006724729.1:p.Gln2382His
XM_006724667.2:c.6984G>C	XP_006724730.1:p.Gln2328His
XR_938400.1:n.8855G>C
NM_000489.5:c.7263G>C	NP_000480.3:p.Gln2421His
XM_005262153.5:c.7260G>C	XP_005262210.2:p.Gln2420His
XM_005262154.5:c.7176G>C	XP_005262211.2:p.Gln2392His
XM_005262155.4:c.7146G>C	XP_005262212.2:p.Gln2382His
XM_005262156.4:c.7098G>C	XP_005262213.2:p.Gln2366His
XM_005262157.5:c.7059G>C	XP_005262214.2:p.Gln2353His
XM_006724666.4:c.7146G>C	XP_006724729.1:p.Gln2382His
XM_006724667.3:c.6984G>C	XP_006724730.1:p.Gln2328His
XM_017029601.2:c.7173G>C	XP_016885090.1:p.Gln2391His
XM_017029602.1:c.7143G>C	XP_016885091.1:p.Gln2381His
XM_017029603.1:c.7095G>C	XP_016885092.1:p.Gln2365His
XM_017029604.2:c.7062G>C	XP_016885093.1:p.Gln2354His
XM_017029605.1:c.7059G>C	XP_016885094.1:p.Gln2353His
XM_017029606.2:c.7032G>C	XP_016885095.1:p.Gln2344His
XM_017029607.2:c.7029G>C	XP_016885096.1:p.Gln2343His
XM_017029608.2:c.6981G>C	XP_016885097.1:p.Gln2327His
XM_017029609.1:c.6945G>C	XP_016885098.1:p.Gln2315His
XM_017029610.1:c.6942G>C	XP_016885099.1:p.Gln2314His
XM_017029611.1:c.6897G>C	XP_016885100.1:p.Gln2299His
XR_001755700.2:n.7562G>C
NM_138270.4:c.7149G>C	NP_612114.2:p.Gln2383His
NM_000489.6:c.7263G>C MANE Select	NP_000480.3:p.Gln2421His
NM_138270.5:c.7149G>C	NP_612114.2:p.Gln2383His