Canonical Allele Identifier: CA413708236

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4453A>C MANE Select	ENSP00000362441.4:p.Lys1485Gln
ENST00000373344.9:c.4453A>C	ENSP00000362441.4:p.Lys1485Gln
ENST00000395603.7:c.4339A>C	ENSP00000378967.3:p.Lys1447Gln
ENST00000480283.5:c.*4081A>C	ENSP00000480196.1:n.*4081A>C
ENST00000623242.3:c.59A>C
NM_000489.4:c.4453A>C	NP_000480.3:p.Lys1485Gln
NM_138270.3:c.4339A>C	NP_612114.2:p.Lys1447Gln
XM_005262153.3:c.4450A>C	XP_005262210.2:p.Lys1484Gln
XM_005262154.3:c.4366A>C	XP_005262211.2:p.Lys1456Gln
XM_005262155.3:c.4336A>C	XP_005262212.2:p.Lys1446Gln
XM_005262156.3:c.4288A>C	XP_005262213.2:p.Lys1430Gln
XM_005262157.3:c.4249A>C	XP_005262214.2:p.Lys1417Gln
XM_006724666.2:c.4336A>C	XP_006724729.1:p.Lys1446Gln
XM_006724667.2:c.4174A>C	XP_006724730.1:p.Lys1392Gln
XM_006724668.2:c.4453A>C	XP_006724731.1:p.Lys1485Gln
XR_938400.1:n.4721A>C
NM_000489.5:c.4453A>C	NP_000480.3:p.Lys1485Gln
XM_005262153.5:c.4450A>C	XP_005262210.2:p.Lys1484Gln
XM_005262154.5:c.4366A>C	XP_005262211.2:p.Lys1456Gln
XM_005262155.4:c.4336A>C	XP_005262212.2:p.Lys1446Gln
XM_005262156.4:c.4288A>C	XP_005262213.2:p.Lys1430Gln
XM_005262157.5:c.4249A>C	XP_005262214.2:p.Lys1417Gln
XM_006724666.4:c.4336A>C	XP_006724729.1:p.Lys1446Gln
XM_006724667.3:c.4174A>C	XP_006724730.1:p.Lys1392Gln
XM_006724668.3:c.4453A>C	XP_006724731.1:p.Lys1485Gln
XM_017029601.2:c.4363A>C	XP_016885090.1:p.Lys1455Gln
XM_017029602.1:c.4333A>C	XP_016885091.1:p.Lys1445Gln
XM_017029603.1:c.4285A>C	XP_016885092.1:p.Lys1429Gln
XM_017029604.2:c.4252A>C	XP_016885093.1:p.Lys1418Gln
XM_017029605.1:c.4249A>C	XP_016885094.1:p.Lys1417Gln
XM_017029606.2:c.4222A>C	XP_016885095.1:p.Lys1408Gln
XM_017029607.2:c.4219A>C	XP_016885096.1:p.Lys1407Gln
XM_017029608.2:c.4171A>C	XP_016885097.1:p.Lys1391Gln
XM_017029609.1:c.4135A>C	XP_016885098.1:p.Lys1379Gln
XM_017029610.1:c.4132A>C	XP_016885099.1:p.Lys1378Gln
XM_017029611.1:c.4087A>C	XP_016885100.1:p.Lys1363Gln
XR_001755700.2:n.4678A>C
NM_138270.4:c.4339A>C	NP_612114.2:p.Lys1447Gln
NM_000489.6:c.4453A>C MANE Select	NP_000480.3:p.Lys1485Gln
NM_138270.5:c.4339A>C	NP_612114.2:p.Lys1447Gln