Canonical Allele Identifier: CA413703490

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763855C>T (hg19) ; chrX:g.77508377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508377C>T , CM000685.2:g.77508377C>T	GRCh38
NC_000023.10:g.76763855C>T , CM000685.1:g.76763855C>T	GRCh37
NC_000023.9:g.76650511C>T	NCBI36
NG_008838.2:g.282845G>A
NG_008838.3:g.282893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7453G>A MANE Select	ENSP00000362441.4:p.Gly2485Arg
ENST00000675732.1:c.2551G>A	ENSP00000502598.1:p.Gly851Arg
ENST00000373344.9:c.7453G>A	ENSP00000362441.4:p.Gly2485Arg
ENST00000395603.7:c.7339G>A	ENSP00000378967.3:p.Gly2447Arg
ENST00000480283.5:c.*7081G>A	ENSP00000480196.1:n.*7081G>A
ENST00000623706.3:n.5773G>A
NM_000489.4:c.7453G>A	NP_000480.3:p.Gly2485Arg
NM_138270.3:c.7339G>A	NP_612114.2:p.Gly2447Arg
XM_005262153.3:c.7450G>A	XP_005262210.2:p.Gly2484Arg
XM_005262154.3:c.7366G>A	XP_005262211.2:p.Gly2456Arg
XM_005262155.3:c.7336G>A	XP_005262212.2:p.Gly2446Arg
XM_005262156.3:c.7288G>A	XP_005262213.2:p.Gly2430Arg
XM_005262157.3:c.7249G>A	XP_005262214.2:p.Gly2417Arg
XM_006724666.2:c.7336G>A	XP_006724729.1:p.Gly2446Arg
XM_006724667.2:c.7174G>A	XP_006724730.1:p.Gly2392Arg
XR_938400.1:n.9045G>A
NM_000489.5:c.7453G>A	NP_000480.3:p.Gly2485Arg
XM_005262153.5:c.7450G>A	XP_005262210.2:p.Gly2484Arg
XM_005262154.5:c.7366G>A	XP_005262211.2:p.Gly2456Arg
XM_005262155.4:c.7336G>A	XP_005262212.2:p.Gly2446Arg
XM_005262156.4:c.7288G>A	XP_005262213.2:p.Gly2430Arg
XM_005262157.5:c.7249G>A	XP_005262214.2:p.Gly2417Arg
XM_006724666.4:c.7336G>A	XP_006724729.1:p.Gly2446Arg
XM_006724667.3:c.7174G>A	XP_006724730.1:p.Gly2392Arg
XM_017029601.2:c.7363G>A	XP_016885090.1:p.Gly2455Arg
XM_017029602.1:c.7333G>A	XP_016885091.1:p.Gly2445Arg
XM_017029603.1:c.7285G>A	XP_016885092.1:p.Gly2429Arg
XM_017029604.2:c.7252G>A	XP_016885093.1:p.Gly2418Arg
XM_017029605.1:c.7249G>A	XP_016885094.1:p.Gly2417Arg
XM_017029606.2:c.7222G>A	XP_016885095.1:p.Gly2408Arg
XM_017029607.2:c.7219G>A	XP_016885096.1:p.Gly2407Arg
XM_017029608.2:c.7171G>A	XP_016885097.1:p.Gly2391Arg
XM_017029609.1:c.7135G>A	XP_016885098.1:p.Gly2379Arg
XM_017029610.1:c.7132G>A	XP_016885099.1:p.Gly2378Arg
XM_017029611.1:c.7087G>A	XP_016885100.1:p.Gly2363Arg
XR_001755700.2:n.7752G>A
NM_138270.4:c.7339G>A	NP_612114.2:p.Gly2447Arg
NM_000489.6:c.7453G>A MANE Select	NP_000480.3:p.Gly2485Arg
NM_138270.5:c.7339G>A	NP_612114.2:p.Gly2447Arg