Canonical Allele Identifier: CA413708242

Gene: ATRX

Linked Data

• dbSNP Id: rs2069280258
• COSMIC: COSM1125435 ; COSM1125436
• MyVariant Identifiers: chrX:g.76907711G>T (hg19) ; chrX:g.77652221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652221G>T , CM000685.2:g.77652221G>T	GRCh38
NC_000023.10:g.76907711G>T , CM000685.1:g.76907711G>T	GRCh37
NC_000023.9:g.76794367G>T	NCBI36
NG_008838.2:g.139001C>A
NG_008838.3:g.139049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4450C>A MANE Select	ENSP00000362441.4:p.Leu1484Ile
ENST00000373344.9:c.4450C>A	ENSP00000362441.4:p.Leu1484Ile
ENST00000395603.7:c.4336C>A	ENSP00000378967.3:p.Leu1446Ile
ENST00000480283.5:c.*4078C>A	ENSP00000480196.1:n.*4078C>A
ENST00000623242.3:c.56C>A
NM_000489.4:c.4450C>A	NP_000480.3:p.Leu1484Ile
NM_138270.3:c.4336C>A	NP_612114.2:p.Leu1446Ile
XM_005262153.3:c.4447C>A	XP_005262210.2:p.Leu1483Ile
XM_005262154.3:c.4363C>A	XP_005262211.2:p.Leu1455Ile
XM_005262155.3:c.4333C>A	XP_005262212.2:p.Leu1445Ile
XM_005262156.3:c.4285C>A	XP_005262213.2:p.Leu1429Ile
XM_005262157.3:c.4246C>A	XP_005262214.2:p.Leu1416Ile
XM_006724666.2:c.4333C>A	XP_006724729.1:p.Leu1445Ile
XM_006724667.2:c.4171C>A	XP_006724730.1:p.Leu1391Ile
XM_006724668.2:c.4450C>A	XP_006724731.1:p.Leu1484Ile
XR_938400.1:n.4718C>A
NM_000489.5:c.4450C>A	NP_000480.3:p.Leu1484Ile
XM_005262153.5:c.4447C>A	XP_005262210.2:p.Leu1483Ile
XM_005262154.5:c.4363C>A	XP_005262211.2:p.Leu1455Ile
XM_005262155.4:c.4333C>A	XP_005262212.2:p.Leu1445Ile
XM_005262156.4:c.4285C>A	XP_005262213.2:p.Leu1429Ile
XM_005262157.5:c.4246C>A	XP_005262214.2:p.Leu1416Ile
XM_006724666.4:c.4333C>A	XP_006724729.1:p.Leu1445Ile
XM_006724667.3:c.4171C>A	XP_006724730.1:p.Leu1391Ile
XM_006724668.3:c.4450C>A	XP_006724731.1:p.Leu1484Ile
XM_017029601.2:c.4360C>A	XP_016885090.1:p.Leu1454Ile
XM_017029602.1:c.4330C>A	XP_016885091.1:p.Leu1444Ile
XM_017029603.1:c.4282C>A	XP_016885092.1:p.Leu1428Ile
XM_017029604.2:c.4249C>A	XP_016885093.1:p.Leu1417Ile
XM_017029605.1:c.4246C>A	XP_016885094.1:p.Leu1416Ile
XM_017029606.2:c.4219C>A	XP_016885095.1:p.Leu1407Ile
XM_017029607.2:c.4216C>A	XP_016885096.1:p.Leu1406Ile
XM_017029608.2:c.4168C>A	XP_016885097.1:p.Leu1390Ile
XM_017029609.1:c.4132C>A	XP_016885098.1:p.Leu1378Ile
XM_017029610.1:c.4129C>A	XP_016885099.1:p.Leu1377Ile
XM_017029611.1:c.4084C>A	XP_016885100.1:p.Leu1362Ile
XR_001755700.2:n.4675C>A
NM_138270.4:c.4336C>A	NP_612114.2:p.Leu1446Ile
NM_000489.6:c.4450C>A MANE Select	NP_000480.3:p.Leu1484Ile
NM_138270.5:c.4336C>A	NP_612114.2:p.Leu1446Ile