Canonical Allele Identifier: CA413708233

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907707T>C (hg19) ; chrX:g.77652217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652217T>C , CM000685.2:g.77652217T>C	GRCh38
NC_000023.10:g.76907707T>C , CM000685.1:g.76907707T>C	GRCh37
NC_000023.9:g.76794363T>C	NCBI36
NG_008838.2:g.139005A>G
NG_008838.3:g.139053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4454A>G MANE Select	ENSP00000362441.4:p.Lys1485Arg
ENST00000373344.9:c.4454A>G	ENSP00000362441.4:p.Lys1485Arg
ENST00000395603.7:c.4340A>G	ENSP00000378967.3:p.Lys1447Arg
ENST00000480283.5:c.*4082A>G	ENSP00000480196.1:n.*4082A>G
ENST00000623242.3:c.60A>G
NM_000489.4:c.4454A>G	NP_000480.3:p.Lys1485Arg
NM_138270.3:c.4340A>G	NP_612114.2:p.Lys1447Arg
XM_005262153.3:c.4451A>G	XP_005262210.2:p.Lys1484Arg
XM_005262154.3:c.4367A>G	XP_005262211.2:p.Lys1456Arg
XM_005262155.3:c.4337A>G	XP_005262212.2:p.Lys1446Arg
XM_005262156.3:c.4289A>G	XP_005262213.2:p.Lys1430Arg
XM_005262157.3:c.4250A>G	XP_005262214.2:p.Lys1417Arg
XM_006724666.2:c.4337A>G	XP_006724729.1:p.Lys1446Arg
XM_006724667.2:c.4175A>G	XP_006724730.1:p.Lys1392Arg
XM_006724668.2:c.4454A>G	XP_006724731.1:p.Lys1485Arg
XR_938400.1:n.4722A>G
NM_000489.5:c.4454A>G	NP_000480.3:p.Lys1485Arg
XM_005262153.5:c.4451A>G	XP_005262210.2:p.Lys1484Arg
XM_005262154.5:c.4367A>G	XP_005262211.2:p.Lys1456Arg
XM_005262155.4:c.4337A>G	XP_005262212.2:p.Lys1446Arg
XM_005262156.4:c.4289A>G	XP_005262213.2:p.Lys1430Arg
XM_005262157.5:c.4250A>G	XP_005262214.2:p.Lys1417Arg
XM_006724666.4:c.4337A>G	XP_006724729.1:p.Lys1446Arg
XM_006724667.3:c.4175A>G	XP_006724730.1:p.Lys1392Arg
XM_006724668.3:c.4454A>G	XP_006724731.1:p.Lys1485Arg
XM_017029601.2:c.4364A>G	XP_016885090.1:p.Lys1455Arg
XM_017029602.1:c.4334A>G	XP_016885091.1:p.Lys1445Arg
XM_017029603.1:c.4286A>G	XP_016885092.1:p.Lys1429Arg
XM_017029604.2:c.4253A>G	XP_016885093.1:p.Lys1418Arg
XM_017029605.1:c.4250A>G	XP_016885094.1:p.Lys1417Arg
XM_017029606.2:c.4223A>G	XP_016885095.1:p.Lys1408Arg
XM_017029607.2:c.4220A>G	XP_016885096.1:p.Lys1407Arg
XM_017029608.2:c.4172A>G	XP_016885097.1:p.Lys1391Arg
XM_017029609.1:c.4136A>G	XP_016885098.1:p.Lys1379Arg
XM_017029610.1:c.4133A>G	XP_016885099.1:p.Lys1378Arg
XM_017029611.1:c.4088A>G	XP_016885100.1:p.Lys1363Arg
XR_001755700.2:n.4679A>G
NM_138270.4:c.4340A>G	NP_612114.2:p.Lys1447Arg
NM_000489.6:c.4454A>G MANE Select	NP_000480.3:p.Lys1485Arg
NM_138270.5:c.4340A>G	NP_612114.2:p.Lys1447Arg