Canonical Allele Identifier: CA413708318

Gene: ATRX

Linked Data

• dbSNP Id: rs1557117268
• gnomAD v2: X-76907728-T-C
• gnomAD v4: X-77652238-T-C
• MyVariant Identifiers: chrX:g.76907728T>C (hg19) ; chrX:g.77652238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652238T>C , CM000685.2:g.77652238T>C	GRCh38
NC_000023.10:g.76907728T>C , CM000685.1:g.76907728T>C	GRCh37
NC_000023.9:g.76794384T>C	NCBI36
NG_008838.2:g.138984A>G
NG_008838.3:g.139032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4433A>G MANE Select	ENSP00000362441.4:p.Lys1478Arg
ENST00000373344.9:c.4433A>G	ENSP00000362441.4:p.Lys1478Arg
ENST00000395603.7:c.4319A>G	ENSP00000378967.3:p.Lys1440Arg
ENST00000480283.5:c.*4061A>G	ENSP00000480196.1:n.*4061A>G
ENST00000623242.3:c.39A>G
NM_000489.4:c.4433A>G	NP_000480.3:p.Lys1478Arg
NM_138270.3:c.4319A>G	NP_612114.2:p.Lys1440Arg
XM_005262153.3:c.4430A>G	XP_005262210.2:p.Lys1477Arg
XM_005262154.3:c.4346A>G	XP_005262211.2:p.Lys1449Arg
XM_005262155.3:c.4316A>G	XP_005262212.2:p.Lys1439Arg
XM_005262156.3:c.4268A>G	XP_005262213.2:p.Lys1423Arg
XM_005262157.3:c.4229A>G	XP_005262214.2:p.Lys1410Arg
XM_006724666.2:c.4316A>G	XP_006724729.1:p.Lys1439Arg
XM_006724667.2:c.4154A>G	XP_006724730.1:p.Lys1385Arg
XM_006724668.2:c.4433A>G	XP_006724731.1:p.Lys1478Arg
XR_938400.1:n.4701A>G
NM_000489.5:c.4433A>G	NP_000480.3:p.Lys1478Arg
XM_005262153.5:c.4430A>G	XP_005262210.2:p.Lys1477Arg
XM_005262154.5:c.4346A>G	XP_005262211.2:p.Lys1449Arg
XM_005262155.4:c.4316A>G	XP_005262212.2:p.Lys1439Arg
XM_005262156.4:c.4268A>G	XP_005262213.2:p.Lys1423Arg
XM_005262157.5:c.4229A>G	XP_005262214.2:p.Lys1410Arg
XM_006724666.4:c.4316A>G	XP_006724729.1:p.Lys1439Arg
XM_006724667.3:c.4154A>G	XP_006724730.1:p.Lys1385Arg
XM_006724668.3:c.4433A>G	XP_006724731.1:p.Lys1478Arg
XM_017029601.2:c.4343A>G	XP_016885090.1:p.Lys1448Arg
XM_017029602.1:c.4313A>G	XP_016885091.1:p.Lys1438Arg
XM_017029603.1:c.4265A>G	XP_016885092.1:p.Lys1422Arg
XM_017029604.2:c.4232A>G	XP_016885093.1:p.Lys1411Arg
XM_017029605.1:c.4229A>G	XP_016885094.1:p.Lys1410Arg
XM_017029606.2:c.4202A>G	XP_016885095.1:p.Lys1401Arg
XM_017029607.2:c.4199A>G	XP_016885096.1:p.Lys1400Arg
XM_017029608.2:c.4151A>G	XP_016885097.1:p.Lys1384Arg
XM_017029609.1:c.4115A>G	XP_016885098.1:p.Lys1372Arg
XM_017029610.1:c.4112A>G	XP_016885099.1:p.Lys1371Arg
XM_017029611.1:c.4067A>G	XP_016885100.1:p.Lys1356Arg
XR_001755700.2:n.4658A>G
NM_138270.4:c.4319A>G	NP_612114.2:p.Lys1440Arg
NM_000489.6:c.4433A>G MANE Select	NP_000480.3:p.Lys1478Arg
NM_138270.5:c.4319A>G	NP_612114.2:p.Lys1440Arg