Canonical Allele Identifier: CA413704163

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763951G>T (hg19) ; chrX:g.77508473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508473G>T , CM000685.2:g.77508473G>T	GRCh38
NC_000023.10:g.76763951G>T , CM000685.1:g.76763951G>T	GRCh37
NC_000023.9:g.76650607G>T	NCBI36
NG_008838.2:g.282749C>A
NG_008838.3:g.282797C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7357C>A MANE Select	ENSP00000362441.4:p.Gln2453Lys
ENST00000675732.1:c.2455C>A	ENSP00000502598.1:p.Gln819Lys
ENST00000373344.9:c.7357C>A	ENSP00000362441.4:p.Gln2453Lys
ENST00000395603.7:c.7243C>A	ENSP00000378967.3:p.Gln2415Lys
ENST00000480283.5:c.*6985C>A	ENSP00000480196.1:n.*6985C>A
ENST00000623706.3:n.5677C>A
NM_000489.4:c.7357C>A	NP_000480.3:p.Gln2453Lys
NM_138270.3:c.7243C>A	NP_612114.2:p.Gln2415Lys
XM_005262153.3:c.7354C>A	XP_005262210.2:p.Gln2452Lys
XM_005262154.3:c.7270C>A	XP_005262211.2:p.Gln2424Lys
XM_005262155.3:c.7240C>A	XP_005262212.2:p.Gln2414Lys
XM_005262156.3:c.7192C>A	XP_005262213.2:p.Gln2398Lys
XM_005262157.3:c.7153C>A	XP_005262214.2:p.Gln2385Lys
XM_006724666.2:c.7240C>A	XP_006724729.1:p.Gln2414Lys
XM_006724667.2:c.7078C>A	XP_006724730.1:p.Gln2360Lys
XR_938400.1:n.8949C>A
NM_000489.5:c.7357C>A	NP_000480.3:p.Gln2453Lys
XM_005262153.5:c.7354C>A	XP_005262210.2:p.Gln2452Lys
XM_005262154.5:c.7270C>A	XP_005262211.2:p.Gln2424Lys
XM_005262155.4:c.7240C>A	XP_005262212.2:p.Gln2414Lys
XM_005262156.4:c.7192C>A	XP_005262213.2:p.Gln2398Lys
XM_005262157.5:c.7153C>A	XP_005262214.2:p.Gln2385Lys
XM_006724666.4:c.7240C>A	XP_006724729.1:p.Gln2414Lys
XM_006724667.3:c.7078C>A	XP_006724730.1:p.Gln2360Lys
XM_017029601.2:c.7267C>A	XP_016885090.1:p.Gln2423Lys
XM_017029602.1:c.7237C>A	XP_016885091.1:p.Gln2413Lys
XM_017029603.1:c.7189C>A	XP_016885092.1:p.Gln2397Lys
XM_017029604.2:c.7156C>A	XP_016885093.1:p.Gln2386Lys
XM_017029605.1:c.7153C>A	XP_016885094.1:p.Gln2385Lys
XM_017029606.2:c.7126C>A	XP_016885095.1:p.Gln2376Lys
XM_017029607.2:c.7123C>A	XP_016885096.1:p.Gln2375Lys
XM_017029608.2:c.7075C>A	XP_016885097.1:p.Gln2359Lys
XM_017029609.1:c.7039C>A	XP_016885098.1:p.Gln2347Lys
XM_017029610.1:c.7036C>A	XP_016885099.1:p.Gln2346Lys
XM_017029611.1:c.6991C>A	XP_016885100.1:p.Gln2331Lys
XR_001755700.2:n.7656C>A
NM_138270.4:c.7243C>A	NP_612114.2:p.Gln2415Lys
NM_000489.6:c.7357C>A MANE Select	NP_000480.3:p.Gln2453Lys
NM_138270.5:c.7243C>A	NP_612114.2:p.Gln2415Lys