Canonical Allele Identifier: CA413704545

Gene: ATRX

Linked Data

• dbSNP Id: rs2062760891
• MyVariant Identifiers: chrX:g.76763997C>T (hg19) ; chrX:g.77508519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508519C>T , CM000685.2:g.77508519C>T	GRCh38
NC_000023.10:g.76763997C>T , CM000685.1:g.76763997C>T	GRCh37
NC_000023.9:g.76650653C>T	NCBI36
NG_008838.2:g.282703G>A
NG_008838.3:g.282751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7311G>A MANE Select	ENSP00000362441.4:p.Met2437Ile
ENST00000675732.1:c.2409G>A	ENSP00000502598.1:p.Met803Ile
ENST00000373344.9:c.7311G>A	ENSP00000362441.4:p.Met2437Ile
ENST00000395603.7:c.7197G>A	ENSP00000378967.3:p.Met2399Ile
ENST00000480283.5:c.*6939G>A	ENSP00000480196.1:n.*6939G>A
ENST00000623706.3:n.5631G>A
ENST00000624766.1:n.542G>A
NM_000489.4:c.7311G>A	NP_000480.3:p.Met2437Ile
NM_138270.3:c.7197G>A	NP_612114.2:p.Met2399Ile
XM_005262153.3:c.7308G>A	XP_005262210.2:p.Met2436Ile
XM_005262154.3:c.7224G>A	XP_005262211.2:p.Met2408Ile
XM_005262155.3:c.7194G>A	XP_005262212.2:p.Met2398Ile
XM_005262156.3:c.7146G>A	XP_005262213.2:p.Met2382Ile
XM_005262157.3:c.7107G>A	XP_005262214.2:p.Met2369Ile
XM_006724666.2:c.7194G>A	XP_006724729.1:p.Met2398Ile
XM_006724667.2:c.7032G>A	XP_006724730.1:p.Met2344Ile
XR_938400.1:n.8903G>A
NM_000489.5:c.7311G>A	NP_000480.3:p.Met2437Ile
XM_005262153.5:c.7308G>A	XP_005262210.2:p.Met2436Ile
XM_005262154.5:c.7224G>A	XP_005262211.2:p.Met2408Ile
XM_005262155.4:c.7194G>A	XP_005262212.2:p.Met2398Ile
XM_005262156.4:c.7146G>A	XP_005262213.2:p.Met2382Ile
XM_005262157.5:c.7107G>A	XP_005262214.2:p.Met2369Ile
XM_006724666.4:c.7194G>A	XP_006724729.1:p.Met2398Ile
XM_006724667.3:c.7032G>A	XP_006724730.1:p.Met2344Ile
XM_017029601.2:c.7221G>A	XP_016885090.1:p.Met2407Ile
XM_017029602.1:c.7191G>A	XP_016885091.1:p.Met2397Ile
XM_017029603.1:c.7143G>A	XP_016885092.1:p.Met2381Ile
XM_017029604.2:c.7110G>A	XP_016885093.1:p.Met2370Ile
XM_017029605.1:c.7107G>A	XP_016885094.1:p.Met2369Ile
XM_017029606.2:c.7080G>A	XP_016885095.1:p.Met2360Ile
XM_017029607.2:c.7077G>A	XP_016885096.1:p.Met2359Ile
XM_017029608.2:c.7029G>A	XP_016885097.1:p.Met2343Ile
XM_017029609.1:c.6993G>A	XP_016885098.1:p.Met2331Ile
XM_017029610.1:c.6990G>A	XP_016885099.1:p.Met2330Ile
XM_017029611.1:c.6945G>A	XP_016885100.1:p.Met2315Ile
XR_001755700.2:n.7610G>A
NM_138270.4:c.7197G>A	NP_612114.2:p.Met2399Ile
NM_000489.6:c.7311G>A MANE Select	NP_000480.3:p.Met2437Ile
NM_138270.5:c.7197G>A	NP_612114.2:p.Met2399Ile