Canonical Allele Identifier: CA413703521

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7448A>C MANE Select	ENSP00000362441.4:p.Asn2483Thr
ENST00000675732.1:c.2546A>C	ENSP00000502598.1:p.Asn849Thr
ENST00000373344.9:c.7448A>C	ENSP00000362441.4:p.Asn2483Thr
ENST00000395603.7:c.7334A>C	ENSP00000378967.3:p.Asn2445Thr
ENST00000480283.5:c.*7076A>C	ENSP00000480196.1:n.*7076A>C
ENST00000623706.3:n.5768A>C
NM_000489.4:c.7448A>C	NP_000480.3:p.Asn2483Thr
NM_138270.3:c.7334A>C	NP_612114.2:p.Asn2445Thr
XM_005262153.3:c.7445A>C	XP_005262210.2:p.Asn2482Thr
XM_005262154.3:c.7361A>C	XP_005262211.2:p.Asn2454Thr
XM_005262155.3:c.7331A>C	XP_005262212.2:p.Asn2444Thr
XM_005262156.3:c.7283A>C	XP_005262213.2:p.Asn2428Thr
XM_005262157.3:c.7244A>C	XP_005262214.2:p.Asn2415Thr
XM_006724666.2:c.7331A>C	XP_006724729.1:p.Asn2444Thr
XM_006724667.2:c.7169A>C	XP_006724730.1:p.Asn2390Thr
XR_938400.1:n.9040A>C
NM_000489.5:c.7448A>C	NP_000480.3:p.Asn2483Thr
XM_005262153.5:c.7445A>C	XP_005262210.2:p.Asn2482Thr
XM_005262154.5:c.7361A>C	XP_005262211.2:p.Asn2454Thr
XM_005262155.4:c.7331A>C	XP_005262212.2:p.Asn2444Thr
XM_005262156.4:c.7283A>C	XP_005262213.2:p.Asn2428Thr
XM_005262157.5:c.7244A>C	XP_005262214.2:p.Asn2415Thr
XM_006724666.4:c.7331A>C	XP_006724729.1:p.Asn2444Thr
XM_006724667.3:c.7169A>C	XP_006724730.1:p.Asn2390Thr
XM_017029601.2:c.7358A>C	XP_016885090.1:p.Asn2453Thr
XM_017029602.1:c.7328A>C	XP_016885091.1:p.Asn2443Thr
XM_017029603.1:c.7280A>C	XP_016885092.1:p.Asn2427Thr
XM_017029604.2:c.7247A>C	XP_016885093.1:p.Asn2416Thr
XM_017029605.1:c.7244A>C	XP_016885094.1:p.Asn2415Thr
XM_017029606.2:c.7217A>C	XP_016885095.1:p.Asn2406Thr
XM_017029607.2:c.7214A>C	XP_016885096.1:p.Asn2405Thr
XM_017029608.2:c.7166A>C	XP_016885097.1:p.Asn2389Thr
XM_017029609.1:c.7130A>C	XP_016885098.1:p.Asn2377Thr
XM_017029610.1:c.7127A>C	XP_016885099.1:p.Asn2376Thr
XM_017029611.1:c.7082A>C	XP_016885100.1:p.Asn2361Thr
XR_001755700.2:n.7747A>C
NM_138270.4:c.7334A>C	NP_612114.2:p.Asn2445Thr
NM_000489.6:c.7448A>C MANE Select	NP_000480.3:p.Asn2483Thr
NM_138270.5:c.7334A>C	NP_612114.2:p.Asn2445Thr