Canonical Allele Identifier: CA413704972

Gene: ATRX

Linked Data

• gnomAD v4: X-77508574-T-A
• MyVariant Identifiers: chrX:g.76764052T>A (hg19) ; chrX:g.77508574T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508574T>A , CM000685.2:g.77508574T>A	GRCh38
NC_000023.10:g.76764052T>A , CM000685.1:g.76764052T>A	GRCh37
NC_000023.9:g.76650708T>A	NCBI36
NG_008838.2:g.282648A>T
NG_008838.3:g.282696A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7256A>T MANE Select	ENSP00000362441.4:p.Asn2419Ile
ENST00000675732.1:c.2354A>T	ENSP00000502598.1:p.Asn785Ile
ENST00000373344.9:c.7256A>T	ENSP00000362441.4:p.Asn2419Ile
ENST00000395603.7:c.7142A>T	ENSP00000378967.3:p.Asn2381Ile
ENST00000480283.5:c.*6884A>T	ENSP00000480196.1:n.*6884A>T
ENST00000623706.3:n.5576A>T
ENST00000624766.1:n.487A>T
NM_000489.4:c.7256A>T	NP_000480.3:p.Asn2419Ile
NM_138270.3:c.7142A>T	NP_612114.2:p.Asn2381Ile
XM_005262153.3:c.7253A>T	XP_005262210.2:p.Asn2418Ile
XM_005262154.3:c.7169A>T	XP_005262211.2:p.Asn2390Ile
XM_005262155.3:c.7139A>T	XP_005262212.2:p.Asn2380Ile
XM_005262156.3:c.7091A>T	XP_005262213.2:p.Asn2364Ile
XM_005262157.3:c.7052A>T	XP_005262214.2:p.Asn2351Ile
XM_006724666.2:c.7139A>T	XP_006724729.1:p.Asn2380Ile
XM_006724667.2:c.6977A>T	XP_006724730.1:p.Asn2326Ile
XR_938400.1:n.8848A>T
NM_000489.5:c.7256A>T	NP_000480.3:p.Asn2419Ile
XM_005262153.5:c.7253A>T	XP_005262210.2:p.Asn2418Ile
XM_005262154.5:c.7169A>T	XP_005262211.2:p.Asn2390Ile
XM_005262155.4:c.7139A>T	XP_005262212.2:p.Asn2380Ile
XM_005262156.4:c.7091A>T	XP_005262213.2:p.Asn2364Ile
XM_005262157.5:c.7052A>T	XP_005262214.2:p.Asn2351Ile
XM_006724666.4:c.7139A>T	XP_006724729.1:p.Asn2380Ile
XM_006724667.3:c.6977A>T	XP_006724730.1:p.Asn2326Ile
XM_017029601.2:c.7166A>T	XP_016885090.1:p.Asn2389Ile
XM_017029602.1:c.7136A>T	XP_016885091.1:p.Asn2379Ile
XM_017029603.1:c.7088A>T	XP_016885092.1:p.Asn2363Ile
XM_017029604.2:c.7055A>T	XP_016885093.1:p.Asn2352Ile
XM_017029605.1:c.7052A>T	XP_016885094.1:p.Asn2351Ile
XM_017029606.2:c.7025A>T	XP_016885095.1:p.Asn2342Ile
XM_017029607.2:c.7022A>T	XP_016885096.1:p.Asn2341Ile
XM_017029608.2:c.6974A>T	XP_016885097.1:p.Asn2325Ile
XM_017029609.1:c.6938A>T	XP_016885098.1:p.Asn2313Ile
XM_017029610.1:c.6935A>T	XP_016885099.1:p.Asn2312Ile
XM_017029611.1:c.6890A>T	XP_016885100.1:p.Asn2297Ile
XR_001755700.2:n.7555A>T
NM_138270.4:c.7142A>T	NP_612114.2:p.Asn2381Ile
NM_000489.6:c.7256A>T MANE Select	NP_000480.3:p.Asn2419Ile
NM_138270.5:c.7142A>T	NP_612114.2:p.Asn2381Ile