Canonical Allele Identifier: CA413708227

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907706T>A (hg19) ; chrX:g.77652216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652216T>A , CM000685.2:g.77652216T>A	GRCh38
NC_000023.10:g.76907706T>A , CM000685.1:g.76907706T>A	GRCh37
NC_000023.9:g.76794362T>A	NCBI36
NG_008838.2:g.139006A>T
NG_008838.3:g.139054A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4455A>T MANE Select	ENSP00000362441.4:p.Lys1485Asn
ENST00000373344.9:c.4455A>T	ENSP00000362441.4:p.Lys1485Asn
ENST00000395603.7:c.4341A>T	ENSP00000378967.3:p.Lys1447Asn
ENST00000480283.5:c.*4083A>T	ENSP00000480196.1:n.*4083A>T
ENST00000623242.3:c.61A>T
NM_000489.4:c.4455A>T	NP_000480.3:p.Lys1485Asn
NM_138270.3:c.4341A>T	NP_612114.2:p.Lys1447Asn
XM_005262153.3:c.4452A>T	XP_005262210.2:p.Lys1484Asn
XM_005262154.3:c.4368A>T	XP_005262211.2:p.Lys1456Asn
XM_005262155.3:c.4338A>T	XP_005262212.2:p.Lys1446Asn
XM_005262156.3:c.4290A>T	XP_005262213.2:p.Lys1430Asn
XM_005262157.3:c.4251A>T	XP_005262214.2:p.Lys1417Asn
XM_006724666.2:c.4338A>T	XP_006724729.1:p.Lys1446Asn
XM_006724667.2:c.4176A>T	XP_006724730.1:p.Lys1392Asn
XM_006724668.2:c.4455A>T	XP_006724731.1:p.Lys1485Asn
XR_938400.1:n.4723A>T
NM_000489.5:c.4455A>T	NP_000480.3:p.Lys1485Asn
XM_005262153.5:c.4452A>T	XP_005262210.2:p.Lys1484Asn
XM_005262154.5:c.4368A>T	XP_005262211.2:p.Lys1456Asn
XM_005262155.4:c.4338A>T	XP_005262212.2:p.Lys1446Asn
XM_005262156.4:c.4290A>T	XP_005262213.2:p.Lys1430Asn
XM_005262157.5:c.4251A>T	XP_005262214.2:p.Lys1417Asn
XM_006724666.4:c.4338A>T	XP_006724729.1:p.Lys1446Asn
XM_006724667.3:c.4176A>T	XP_006724730.1:p.Lys1392Asn
XM_006724668.3:c.4455A>T	XP_006724731.1:p.Lys1485Asn
XM_017029601.2:c.4365A>T	XP_016885090.1:p.Lys1455Asn
XM_017029602.1:c.4335A>T	XP_016885091.1:p.Lys1445Asn
XM_017029603.1:c.4287A>T	XP_016885092.1:p.Lys1429Asn
XM_017029604.2:c.4254A>T	XP_016885093.1:p.Lys1418Asn
XM_017029605.1:c.4251A>T	XP_016885094.1:p.Lys1417Asn
XM_017029606.2:c.4224A>T	XP_016885095.1:p.Lys1408Asn
XM_017029607.2:c.4221A>T	XP_016885096.1:p.Lys1407Asn
XM_017029608.2:c.4173A>T	XP_016885097.1:p.Lys1391Asn
XM_017029609.1:c.4137A>T	XP_016885098.1:p.Lys1379Asn
XM_017029610.1:c.4134A>T	XP_016885099.1:p.Lys1378Asn
XM_017029611.1:c.4089A>T	XP_016885100.1:p.Lys1363Asn
XR_001755700.2:n.4680A>T
NM_138270.4:c.4341A>T	NP_612114.2:p.Lys1447Asn
NM_000489.6:c.4455A>T MANE Select	NP_000480.3:p.Lys1485Asn
NM_138270.5:c.4341A>T	NP_612114.2:p.Lys1447Asn