Canonical Allele Identifier: CA413703515

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763860T>A (hg19) ; chrX:g.77508382T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508382T>A , CM000685.2:g.77508382T>A	GRCh38
NC_000023.10:g.76763860T>A , CM000685.1:g.76763860T>A	GRCh37
NC_000023.9:g.76650516T>A	NCBI36
NG_008838.2:g.282840A>T
NG_008838.3:g.282888A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7448A>T MANE Select	ENSP00000362441.4:p.Asn2483Ile
ENST00000675732.1:c.2546A>T	ENSP00000502598.1:p.Asn849Ile
ENST00000373344.9:c.7448A>T	ENSP00000362441.4:p.Asn2483Ile
ENST00000395603.7:c.7334A>T	ENSP00000378967.3:p.Asn2445Ile
ENST00000480283.5:c.*7076A>T	ENSP00000480196.1:n.*7076A>T
ENST00000623706.3:n.5768A>T
NM_000489.4:c.7448A>T	NP_000480.3:p.Asn2483Ile
NM_138270.3:c.7334A>T	NP_612114.2:p.Asn2445Ile
XM_005262153.3:c.7445A>T	XP_005262210.2:p.Asn2482Ile
XM_005262154.3:c.7361A>T	XP_005262211.2:p.Asn2454Ile
XM_005262155.3:c.7331A>T	XP_005262212.2:p.Asn2444Ile
XM_005262156.3:c.7283A>T	XP_005262213.2:p.Asn2428Ile
XM_005262157.3:c.7244A>T	XP_005262214.2:p.Asn2415Ile
XM_006724666.2:c.7331A>T	XP_006724729.1:p.Asn2444Ile
XM_006724667.2:c.7169A>T	XP_006724730.1:p.Asn2390Ile
XR_938400.1:n.9040A>T
NM_000489.5:c.7448A>T	NP_000480.3:p.Asn2483Ile
XM_005262153.5:c.7445A>T	XP_005262210.2:p.Asn2482Ile
XM_005262154.5:c.7361A>T	XP_005262211.2:p.Asn2454Ile
XM_005262155.4:c.7331A>T	XP_005262212.2:p.Asn2444Ile
XM_005262156.4:c.7283A>T	XP_005262213.2:p.Asn2428Ile
XM_005262157.5:c.7244A>T	XP_005262214.2:p.Asn2415Ile
XM_006724666.4:c.7331A>T	XP_006724729.1:p.Asn2444Ile
XM_006724667.3:c.7169A>T	XP_006724730.1:p.Asn2390Ile
XM_017029601.2:c.7358A>T	XP_016885090.1:p.Asn2453Ile
XM_017029602.1:c.7328A>T	XP_016885091.1:p.Asn2443Ile
XM_017029603.1:c.7280A>T	XP_016885092.1:p.Asn2427Ile
XM_017029604.2:c.7247A>T	XP_016885093.1:p.Asn2416Ile
XM_017029605.1:c.7244A>T	XP_016885094.1:p.Asn2415Ile
XM_017029606.2:c.7217A>T	XP_016885095.1:p.Asn2406Ile
XM_017029607.2:c.7214A>T	XP_016885096.1:p.Asn2405Ile
XM_017029608.2:c.7166A>T	XP_016885097.1:p.Asn2389Ile
XM_017029609.1:c.7130A>T	XP_016885098.1:p.Asn2377Ile
XM_017029610.1:c.7127A>T	XP_016885099.1:p.Asn2376Ile
XM_017029611.1:c.7082A>T	XP_016885100.1:p.Asn2361Ile
XR_001755700.2:n.7747A>T
NM_138270.4:c.7334A>T	NP_612114.2:p.Asn2445Ile
NM_000489.6:c.7448A>T MANE Select	NP_000480.3:p.Asn2483Ile
NM_138270.5:c.7334A>T	NP_612114.2:p.Asn2445Ile