Canonical Allele Identifier: CA413703752

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763889C>A (hg19) ; chrX:g.77508411C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508411C>A , CM000685.2:g.77508411C>A	GRCh38
NC_000023.10:g.76763889C>A , CM000685.1:g.76763889C>A	GRCh37
NC_000023.9:g.76650545C>A	NCBI36
NG_008838.2:g.282811G>T
NG_008838.3:g.282859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7419G>T MANE Select	ENSP00000362441.4:p.Gln2473His
ENST00000675732.1:c.2517G>T	ENSP00000502598.1:p.Gln839His
ENST00000373344.9:c.7419G>T	ENSP00000362441.4:p.Gln2473His
ENST00000395603.7:c.7305G>T	ENSP00000378967.3:p.Gln2435His
ENST00000480283.5:c.*7047G>T	ENSP00000480196.1:n.*7047G>T
ENST00000623706.3:n.5739G>T
NM_000489.4:c.7419G>T	NP_000480.3:p.Gln2473His
NM_138270.3:c.7305G>T	NP_612114.2:p.Gln2435His
XM_005262153.3:c.7416G>T	XP_005262210.2:p.Gln2472His
XM_005262154.3:c.7332G>T	XP_005262211.2:p.Gln2444His
XM_005262155.3:c.7302G>T	XP_005262212.2:p.Gln2434His
XM_005262156.3:c.7254G>T	XP_005262213.2:p.Gln2418His
XM_005262157.3:c.7215G>T	XP_005262214.2:p.Gln2405His
XM_006724666.2:c.7302G>T	XP_006724729.1:p.Gln2434His
XM_006724667.2:c.7140G>T	XP_006724730.1:p.Gln2380His
XR_938400.1:n.9011G>T
NM_000489.5:c.7419G>T	NP_000480.3:p.Gln2473His
XM_005262153.5:c.7416G>T	XP_005262210.2:p.Gln2472His
XM_005262154.5:c.7332G>T	XP_005262211.2:p.Gln2444His
XM_005262155.4:c.7302G>T	XP_005262212.2:p.Gln2434His
XM_005262156.4:c.7254G>T	XP_005262213.2:p.Gln2418His
XM_005262157.5:c.7215G>T	XP_005262214.2:p.Gln2405His
XM_006724666.4:c.7302G>T	XP_006724729.1:p.Gln2434His
XM_006724667.3:c.7140G>T	XP_006724730.1:p.Gln2380His
XM_017029601.2:c.7329G>T	XP_016885090.1:p.Gln2443His
XM_017029602.1:c.7299G>T	XP_016885091.1:p.Gln2433His
XM_017029603.1:c.7251G>T	XP_016885092.1:p.Gln2417His
XM_017029604.2:c.7218G>T	XP_016885093.1:p.Gln2406His
XM_017029605.1:c.7215G>T	XP_016885094.1:p.Gln2405His
XM_017029606.2:c.7188G>T	XP_016885095.1:p.Gln2396His
XM_017029607.2:c.7185G>T	XP_016885096.1:p.Gln2395His
XM_017029608.2:c.7137G>T	XP_016885097.1:p.Gln2379His
XM_017029609.1:c.7101G>T	XP_016885098.1:p.Gln2367His
XM_017029610.1:c.7098G>T	XP_016885099.1:p.Gln2366His
XM_017029611.1:c.7053G>T	XP_016885100.1:p.Gln2351His
XR_001755700.2:n.7718G>T
NM_138270.4:c.7305G>T	NP_612114.2:p.Gln2435His
NM_000489.6:c.7419G>T MANE Select	NP_000480.3:p.Gln2473His
NM_138270.5:c.7305G>T	NP_612114.2:p.Gln2435His