Canonical Allele Identifier: CA413708383

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907738T>C (hg19) ; chrX:g.77652248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652248T>C , CM000685.2:g.77652248T>C	GRCh38
NC_000023.10:g.76907738T>C , CM000685.1:g.76907738T>C	GRCh37
NC_000023.9:g.76794394T>C	NCBI36
NG_008838.2:g.138974A>G
NG_008838.3:g.139022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4423A>G MANE Select	ENSP00000362441.4:p.Lys1475Glu
ENST00000373344.9:c.4423A>G	ENSP00000362441.4:p.Lys1475Glu
ENST00000395603.7:c.4309A>G	ENSP00000378967.3:p.Lys1437Glu
ENST00000480283.5:c.*4051A>G	ENSP00000480196.1:n.*4051A>G
ENST00000623242.3:c.29A>G
NM_000489.4:c.4423A>G	NP_000480.3:p.Lys1475Glu
NM_138270.3:c.4309A>G	NP_612114.2:p.Lys1437Glu
XM_005262153.3:c.4420A>G	XP_005262210.2:p.Lys1474Glu
XM_005262154.3:c.4336A>G	XP_005262211.2:p.Lys1446Glu
XM_005262155.3:c.4306A>G	XP_005262212.2:p.Lys1436Glu
XM_005262156.3:c.4258A>G	XP_005262213.2:p.Lys1420Glu
XM_005262157.3:c.4219A>G	XP_005262214.2:p.Lys1407Glu
XM_006724666.2:c.4306A>G	XP_006724729.1:p.Lys1436Glu
XM_006724667.2:c.4144A>G	XP_006724730.1:p.Lys1382Glu
XM_006724668.2:c.4423A>G	XP_006724731.1:p.Lys1475Glu
XR_938400.1:n.4691A>G
NM_000489.5:c.4423A>G	NP_000480.3:p.Lys1475Glu
XM_005262153.5:c.4420A>G	XP_005262210.2:p.Lys1474Glu
XM_005262154.5:c.4336A>G	XP_005262211.2:p.Lys1446Glu
XM_005262155.4:c.4306A>G	XP_005262212.2:p.Lys1436Glu
XM_005262156.4:c.4258A>G	XP_005262213.2:p.Lys1420Glu
XM_005262157.5:c.4219A>G	XP_005262214.2:p.Lys1407Glu
XM_006724666.4:c.4306A>G	XP_006724729.1:p.Lys1436Glu
XM_006724667.3:c.4144A>G	XP_006724730.1:p.Lys1382Glu
XM_006724668.3:c.4423A>G	XP_006724731.1:p.Lys1475Glu
XM_017029601.2:c.4333A>G	XP_016885090.1:p.Lys1445Glu
XM_017029602.1:c.4303A>G	XP_016885091.1:p.Lys1435Glu
XM_017029603.1:c.4255A>G	XP_016885092.1:p.Lys1419Glu
XM_017029604.2:c.4222A>G	XP_016885093.1:p.Lys1408Glu
XM_017029605.1:c.4219A>G	XP_016885094.1:p.Lys1407Glu
XM_017029606.2:c.4192A>G	XP_016885095.1:p.Lys1398Glu
XM_017029607.2:c.4189A>G	XP_016885096.1:p.Lys1397Glu
XM_017029608.2:c.4141A>G	XP_016885097.1:p.Lys1381Glu
XM_017029609.1:c.4105A>G	XP_016885098.1:p.Lys1369Glu
XM_017029610.1:c.4102A>G	XP_016885099.1:p.Lys1368Glu
XM_017029611.1:c.4057A>G	XP_016885100.1:p.Lys1353Glu
XR_001755700.2:n.4648A>G
NM_138270.4:c.4309A>G	NP_612114.2:p.Lys1437Glu
NM_000489.6:c.4423A>G MANE Select	NP_000480.3:p.Lys1475Glu
NM_138270.5:c.4309A>G	NP_612114.2:p.Lys1437Glu