Canonical Allele Identifier: CA413708382

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4423A>T MANE Select	ENSP00000362441.4:p.Lys1475Ter
ENST00000373344.9:c.4423A>T	ENSP00000362441.4:p.Lys1475Ter
ENST00000395603.7:c.4309A>T	ENSP00000378967.3:p.Lys1437Ter
ENST00000480283.5:c.*4051A>T	ENSP00000480196.1:n.*4051A>T
ENST00000623242.3:c.29A>T
NM_000489.4:c.4423A>T	NP_000480.3:p.Lys1475Ter
NM_138270.3:c.4309A>T	NP_612114.2:p.Lys1437Ter
XM_005262153.3:c.4420A>T	XP_005262210.2:p.Lys1474Ter
XM_005262154.3:c.4336A>T	XP_005262211.2:p.Lys1446Ter
XM_005262155.3:c.4306A>T	XP_005262212.2:p.Lys1436Ter
XM_005262156.3:c.4258A>T	XP_005262213.2:p.Lys1420Ter
XM_005262157.3:c.4219A>T	XP_005262214.2:p.Lys1407Ter
XM_006724666.2:c.4306A>T	XP_006724729.1:p.Lys1436Ter
XM_006724667.2:c.4144A>T	XP_006724730.1:p.Lys1382Ter
XM_006724668.2:c.4423A>T	XP_006724731.1:p.Lys1475Ter
XR_938400.1:n.4691A>T
NM_000489.5:c.4423A>T	NP_000480.3:p.Lys1475Ter
XM_005262153.5:c.4420A>T	XP_005262210.2:p.Lys1474Ter
XM_005262154.5:c.4336A>T	XP_005262211.2:p.Lys1446Ter
XM_005262155.4:c.4306A>T	XP_005262212.2:p.Lys1436Ter
XM_005262156.4:c.4258A>T	XP_005262213.2:p.Lys1420Ter
XM_005262157.5:c.4219A>T	XP_005262214.2:p.Lys1407Ter
XM_006724666.4:c.4306A>T	XP_006724729.1:p.Lys1436Ter
XM_006724667.3:c.4144A>T	XP_006724730.1:p.Lys1382Ter
XM_006724668.3:c.4423A>T	XP_006724731.1:p.Lys1475Ter
XM_017029601.2:c.4333A>T	XP_016885090.1:p.Lys1445Ter
XM_017029602.1:c.4303A>T	XP_016885091.1:p.Lys1435Ter
XM_017029603.1:c.4255A>T	XP_016885092.1:p.Lys1419Ter
XM_017029604.2:c.4222A>T	XP_016885093.1:p.Lys1408Ter
XM_017029605.1:c.4219A>T	XP_016885094.1:p.Lys1407Ter
XM_017029606.2:c.4192A>T	XP_016885095.1:p.Lys1398Ter
XM_017029607.2:c.4189A>T	XP_016885096.1:p.Lys1397Ter
XM_017029608.2:c.4141A>T	XP_016885097.1:p.Lys1381Ter
XM_017029609.1:c.4105A>T	XP_016885098.1:p.Lys1369Ter
XM_017029610.1:c.4102A>T	XP_016885099.1:p.Lys1368Ter
XM_017029611.1:c.4057A>T	XP_016885100.1:p.Lys1353Ter
XR_001755700.2:n.4648A>T
NM_138270.4:c.4309A>T	NP_612114.2:p.Lys1437Ter
NM_000489.6:c.4423A>T MANE Select	NP_000480.3:p.Lys1475Ter
NM_138270.5:c.4309A>T	NP_612114.2:p.Lys1437Ter