Canonical Allele Identifier: CA413708235

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907708T>C (hg19) ; chrX:g.77652218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652218T>C , CM000685.2:g.77652218T>C	GRCh38
NC_000023.10:g.76907708T>C , CM000685.1:g.76907708T>C	GRCh37
NC_000023.9:g.76794364T>C	NCBI36
NG_008838.2:g.139004A>G
NG_008838.3:g.139052A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4453A>G MANE Select	ENSP00000362441.4:p.Lys1485Glu
ENST00000373344.9:c.4453A>G	ENSP00000362441.4:p.Lys1485Glu
ENST00000395603.7:c.4339A>G	ENSP00000378967.3:p.Lys1447Glu
ENST00000480283.5:c.*4081A>G	ENSP00000480196.1:n.*4081A>G
ENST00000623242.3:c.59A>G
NM_000489.4:c.4453A>G	NP_000480.3:p.Lys1485Glu
NM_138270.3:c.4339A>G	NP_612114.2:p.Lys1447Glu
XM_005262153.3:c.4450A>G	XP_005262210.2:p.Lys1484Glu
XM_005262154.3:c.4366A>G	XP_005262211.2:p.Lys1456Glu
XM_005262155.3:c.4336A>G	XP_005262212.2:p.Lys1446Glu
XM_005262156.3:c.4288A>G	XP_005262213.2:p.Lys1430Glu
XM_005262157.3:c.4249A>G	XP_005262214.2:p.Lys1417Glu
XM_006724666.2:c.4336A>G	XP_006724729.1:p.Lys1446Glu
XM_006724667.2:c.4174A>G	XP_006724730.1:p.Lys1392Glu
XM_006724668.2:c.4453A>G	XP_006724731.1:p.Lys1485Glu
XR_938400.1:n.4721A>G
NM_000489.5:c.4453A>G	NP_000480.3:p.Lys1485Glu
XM_005262153.5:c.4450A>G	XP_005262210.2:p.Lys1484Glu
XM_005262154.5:c.4366A>G	XP_005262211.2:p.Lys1456Glu
XM_005262155.4:c.4336A>G	XP_005262212.2:p.Lys1446Glu
XM_005262156.4:c.4288A>G	XP_005262213.2:p.Lys1430Glu
XM_005262157.5:c.4249A>G	XP_005262214.2:p.Lys1417Glu
XM_006724666.4:c.4336A>G	XP_006724729.1:p.Lys1446Glu
XM_006724667.3:c.4174A>G	XP_006724730.1:p.Lys1392Glu
XM_006724668.3:c.4453A>G	XP_006724731.1:p.Lys1485Glu
XM_017029601.2:c.4363A>G	XP_016885090.1:p.Lys1455Glu
XM_017029602.1:c.4333A>G	XP_016885091.1:p.Lys1445Glu
XM_017029603.1:c.4285A>G	XP_016885092.1:p.Lys1429Glu
XM_017029604.2:c.4252A>G	XP_016885093.1:p.Lys1418Glu
XM_017029605.1:c.4249A>G	XP_016885094.1:p.Lys1417Glu
XM_017029606.2:c.4222A>G	XP_016885095.1:p.Lys1408Glu
XM_017029607.2:c.4219A>G	XP_016885096.1:p.Lys1407Glu
XM_017029608.2:c.4171A>G	XP_016885097.1:p.Lys1391Glu
XM_017029609.1:c.4135A>G	XP_016885098.1:p.Lys1379Glu
XM_017029610.1:c.4132A>G	XP_016885099.1:p.Lys1378Glu
XM_017029611.1:c.4087A>G	XP_016885100.1:p.Lys1363Glu
XR_001755700.2:n.4678A>G
NM_138270.4:c.4339A>G	NP_612114.2:p.Lys1447Glu
NM_000489.6:c.4453A>G MANE Select	NP_000480.3:p.Lys1485Glu
NM_138270.5:c.4339A>G	NP_612114.2:p.Lys1447Glu