Canonical Allele Identifier: CA413704152

Gene: ATRX

Linked Data

• dbSNP Id: rs1463840080
• MyVariant Identifiers: chrX:g.76763949C>A (hg19) ; chrX:g.77508471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508471C>A , CM000685.2:g.77508471C>A	GRCh38
NC_000023.10:g.76763949C>A , CM000685.1:g.76763949C>A	GRCh37
NC_000023.9:g.76650605C>A	NCBI36
NG_008838.2:g.282751G>T
NG_008838.3:g.282799G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7359G>T MANE Select	ENSP00000362441.4:p.Gln2453His
ENST00000675732.1:c.2457G>T	ENSP00000502598.1:p.Gln819His
ENST00000373344.9:c.7359G>T	ENSP00000362441.4:p.Gln2453His
ENST00000395603.7:c.7245G>T	ENSP00000378967.3:p.Gln2415His
ENST00000480283.5:c.*6987G>T	ENSP00000480196.1:n.*6987G>T
ENST00000623706.3:n.5679G>T
NM_000489.4:c.7359G>T	NP_000480.3:p.Gln2453His
NM_138270.3:c.7245G>T	NP_612114.2:p.Gln2415His
XM_005262153.3:c.7356G>T	XP_005262210.2:p.Gln2452His
XM_005262154.3:c.7272G>T	XP_005262211.2:p.Gln2424His
XM_005262155.3:c.7242G>T	XP_005262212.2:p.Gln2414His
XM_005262156.3:c.7194G>T	XP_005262213.2:p.Gln2398His
XM_005262157.3:c.7155G>T	XP_005262214.2:p.Gln2385His
XM_006724666.2:c.7242G>T	XP_006724729.1:p.Gln2414His
XM_006724667.2:c.7080G>T	XP_006724730.1:p.Gln2360His
XR_938400.1:n.8951G>T
NM_000489.5:c.7359G>T	NP_000480.3:p.Gln2453His
XM_005262153.5:c.7356G>T	XP_005262210.2:p.Gln2452His
XM_005262154.5:c.7272G>T	XP_005262211.2:p.Gln2424His
XM_005262155.4:c.7242G>T	XP_005262212.2:p.Gln2414His
XM_005262156.4:c.7194G>T	XP_005262213.2:p.Gln2398His
XM_005262157.5:c.7155G>T	XP_005262214.2:p.Gln2385His
XM_006724666.4:c.7242G>T	XP_006724729.1:p.Gln2414His
XM_006724667.3:c.7080G>T	XP_006724730.1:p.Gln2360His
XM_017029601.2:c.7269G>T	XP_016885090.1:p.Gln2423His
XM_017029602.1:c.7239G>T	XP_016885091.1:p.Gln2413His
XM_017029603.1:c.7191G>T	XP_016885092.1:p.Gln2397His
XM_017029604.2:c.7158G>T	XP_016885093.1:p.Gln2386His
XM_017029605.1:c.7155G>T	XP_016885094.1:p.Gln2385His
XM_017029606.2:c.7128G>T	XP_016885095.1:p.Gln2376His
XM_017029607.2:c.7125G>T	XP_016885096.1:p.Gln2375His
XM_017029608.2:c.7077G>T	XP_016885097.1:p.Gln2359His
XM_017029609.1:c.7041G>T	XP_016885098.1:p.Gln2347His
XM_017029610.1:c.7038G>T	XP_016885099.1:p.Gln2346His
XM_017029611.1:c.6993G>T	XP_016885100.1:p.Gln2331His
XR_001755700.2:n.7658G>T
NM_138270.4:c.7245G>T	NP_612114.2:p.Gln2415His
NM_000489.6:c.7359G>T MANE Select	NP_000480.3:p.Gln2453His
NM_138270.5:c.7245G>T	NP_612114.2:p.Gln2415His