Canonical Allele Identifier: CA413708386

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4423A>C MANE Select	ENSP00000362441.4:p.Lys1475Gln
ENST00000373344.9:c.4423A>C	ENSP00000362441.4:p.Lys1475Gln
ENST00000395603.7:c.4309A>C	ENSP00000378967.3:p.Lys1437Gln
ENST00000480283.5:c.*4051A>C	ENSP00000480196.1:n.*4051A>C
ENST00000623242.3:c.29A>C
NM_000489.4:c.4423A>C	NP_000480.3:p.Lys1475Gln
NM_138270.3:c.4309A>C	NP_612114.2:p.Lys1437Gln
XM_005262153.3:c.4420A>C	XP_005262210.2:p.Lys1474Gln
XM_005262154.3:c.4336A>C	XP_005262211.2:p.Lys1446Gln
XM_005262155.3:c.4306A>C	XP_005262212.2:p.Lys1436Gln
XM_005262156.3:c.4258A>C	XP_005262213.2:p.Lys1420Gln
XM_005262157.3:c.4219A>C	XP_005262214.2:p.Lys1407Gln
XM_006724666.2:c.4306A>C	XP_006724729.1:p.Lys1436Gln
XM_006724667.2:c.4144A>C	XP_006724730.1:p.Lys1382Gln
XM_006724668.2:c.4423A>C	XP_006724731.1:p.Lys1475Gln
XR_938400.1:n.4691A>C
NM_000489.5:c.4423A>C	NP_000480.3:p.Lys1475Gln
XM_005262153.5:c.4420A>C	XP_005262210.2:p.Lys1474Gln
XM_005262154.5:c.4336A>C	XP_005262211.2:p.Lys1446Gln
XM_005262155.4:c.4306A>C	XP_005262212.2:p.Lys1436Gln
XM_005262156.4:c.4258A>C	XP_005262213.2:p.Lys1420Gln
XM_005262157.5:c.4219A>C	XP_005262214.2:p.Lys1407Gln
XM_006724666.4:c.4306A>C	XP_006724729.1:p.Lys1436Gln
XM_006724667.3:c.4144A>C	XP_006724730.1:p.Lys1382Gln
XM_006724668.3:c.4423A>C	XP_006724731.1:p.Lys1475Gln
XM_017029601.2:c.4333A>C	XP_016885090.1:p.Lys1445Gln
XM_017029602.1:c.4303A>C	XP_016885091.1:p.Lys1435Gln
XM_017029603.1:c.4255A>C	XP_016885092.1:p.Lys1419Gln
XM_017029604.2:c.4222A>C	XP_016885093.1:p.Lys1408Gln
XM_017029605.1:c.4219A>C	XP_016885094.1:p.Lys1407Gln
XM_017029606.2:c.4192A>C	XP_016885095.1:p.Lys1398Gln
XM_017029607.2:c.4189A>C	XP_016885096.1:p.Lys1397Gln
XM_017029608.2:c.4141A>C	XP_016885097.1:p.Lys1381Gln
XM_017029609.1:c.4105A>C	XP_016885098.1:p.Lys1369Gln
XM_017029610.1:c.4102A>C	XP_016885099.1:p.Lys1368Gln
XM_017029611.1:c.4057A>C	XP_016885100.1:p.Lys1353Gln
XR_001755700.2:n.4648A>C
NM_138270.4:c.4309A>C	NP_612114.2:p.Lys1437Gln
NM_000489.6:c.4423A>C MANE Select	NP_000480.3:p.Lys1475Gln
NM_138270.5:c.4309A>C	NP_612114.2:p.Lys1437Gln