Canonical Allele Identifier: CA413708237

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907710A>C (hg19) ; chrX:g.77652220A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652220A>C , CM000685.2:g.77652220A>C	GRCh38
NC_000023.10:g.76907710A>C , CM000685.1:g.76907710A>C	GRCh37
NC_000023.9:g.76794366A>C	NCBI36
NG_008838.2:g.139002T>G
NG_008838.3:g.139050T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4451T>G MANE Select	ENSP00000362441.4:p.Leu1484Arg
ENST00000373344.9:c.4451T>G	ENSP00000362441.4:p.Leu1484Arg
ENST00000395603.7:c.4337T>G	ENSP00000378967.3:p.Leu1446Arg
ENST00000480283.5:c.*4079T>G	ENSP00000480196.1:n.*4079T>G
ENST00000623242.3:c.57T>G
NM_000489.4:c.4451T>G	NP_000480.3:p.Leu1484Arg
NM_138270.3:c.4337T>G	NP_612114.2:p.Leu1446Arg
XM_005262153.3:c.4448T>G	XP_005262210.2:p.Leu1483Arg
XM_005262154.3:c.4364T>G	XP_005262211.2:p.Leu1455Arg
XM_005262155.3:c.4334T>G	XP_005262212.2:p.Leu1445Arg
XM_005262156.3:c.4286T>G	XP_005262213.2:p.Leu1429Arg
XM_005262157.3:c.4247T>G	XP_005262214.2:p.Leu1416Arg
XM_006724666.2:c.4334T>G	XP_006724729.1:p.Leu1445Arg
XM_006724667.2:c.4172T>G	XP_006724730.1:p.Leu1391Arg
XM_006724668.2:c.4451T>G	XP_006724731.1:p.Leu1484Arg
XR_938400.1:n.4719T>G
NM_000489.5:c.4451T>G	NP_000480.3:p.Leu1484Arg
XM_005262153.5:c.4448T>G	XP_005262210.2:p.Leu1483Arg
XM_005262154.5:c.4364T>G	XP_005262211.2:p.Leu1455Arg
XM_005262155.4:c.4334T>G	XP_005262212.2:p.Leu1445Arg
XM_005262156.4:c.4286T>G	XP_005262213.2:p.Leu1429Arg
XM_005262157.5:c.4247T>G	XP_005262214.2:p.Leu1416Arg
XM_006724666.4:c.4334T>G	XP_006724729.1:p.Leu1445Arg
XM_006724667.3:c.4172T>G	XP_006724730.1:p.Leu1391Arg
XM_006724668.3:c.4451T>G	XP_006724731.1:p.Leu1484Arg
XM_017029601.2:c.4361T>G	XP_016885090.1:p.Leu1454Arg
XM_017029602.1:c.4331T>G	XP_016885091.1:p.Leu1444Arg
XM_017029603.1:c.4283T>G	XP_016885092.1:p.Leu1428Arg
XM_017029604.2:c.4250T>G	XP_016885093.1:p.Leu1417Arg
XM_017029605.1:c.4247T>G	XP_016885094.1:p.Leu1416Arg
XM_017029606.2:c.4220T>G	XP_016885095.1:p.Leu1407Arg
XM_017029607.2:c.4217T>G	XP_016885096.1:p.Leu1406Arg
XM_017029608.2:c.4169T>G	XP_016885097.1:p.Leu1390Arg
XM_017029609.1:c.4133T>G	XP_016885098.1:p.Leu1378Arg
XM_017029610.1:c.4130T>G	XP_016885099.1:p.Leu1377Arg
XM_017029611.1:c.4085T>G	XP_016885100.1:p.Leu1362Arg
XR_001755700.2:n.4676T>G
NM_138270.4:c.4337T>G	NP_612114.2:p.Leu1446Arg
NM_000489.6:c.4451T>G MANE Select	NP_000480.3:p.Leu1484Arg
NM_138270.5:c.4337T>G	NP_612114.2:p.Leu1446Arg