Canonical Allele Identifier: CA413703770

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763890T>G (hg19) ; chrX:g.77508412T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508412T>G , CM000685.2:g.77508412T>G	GRCh38
NC_000023.10:g.76763890T>G , CM000685.1:g.76763890T>G	GRCh37
NC_000023.9:g.76650546T>G	NCBI36
NG_008838.2:g.282810A>C
NG_008838.3:g.282858A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7418A>C MANE Select	ENSP00000362441.4:p.Gln2473Pro
ENST00000675732.1:c.2516A>C	ENSP00000502598.1:p.Gln839Pro
ENST00000373344.9:c.7418A>C	ENSP00000362441.4:p.Gln2473Pro
ENST00000395603.7:c.7304A>C	ENSP00000378967.3:p.Gln2435Pro
ENST00000480283.5:c.*7046A>C	ENSP00000480196.1:n.*7046A>C
ENST00000623706.3:n.5738A>C
NM_000489.4:c.7418A>C	NP_000480.3:p.Gln2473Pro
NM_138270.3:c.7304A>C	NP_612114.2:p.Gln2435Pro
XM_005262153.3:c.7415A>C	XP_005262210.2:p.Gln2472Pro
XM_005262154.3:c.7331A>C	XP_005262211.2:p.Gln2444Pro
XM_005262155.3:c.7301A>C	XP_005262212.2:p.Gln2434Pro
XM_005262156.3:c.7253A>C	XP_005262213.2:p.Gln2418Pro
XM_005262157.3:c.7214A>C	XP_005262214.2:p.Gln2405Pro
XM_006724666.2:c.7301A>C	XP_006724729.1:p.Gln2434Pro
XM_006724667.2:c.7139A>C	XP_006724730.1:p.Gln2380Pro
XR_938400.1:n.9010A>C
NM_000489.5:c.7418A>C	NP_000480.3:p.Gln2473Pro
XM_005262153.5:c.7415A>C	XP_005262210.2:p.Gln2472Pro
XM_005262154.5:c.7331A>C	XP_005262211.2:p.Gln2444Pro
XM_005262155.4:c.7301A>C	XP_005262212.2:p.Gln2434Pro
XM_005262156.4:c.7253A>C	XP_005262213.2:p.Gln2418Pro
XM_005262157.5:c.7214A>C	XP_005262214.2:p.Gln2405Pro
XM_006724666.4:c.7301A>C	XP_006724729.1:p.Gln2434Pro
XM_006724667.3:c.7139A>C	XP_006724730.1:p.Gln2380Pro
XM_017029601.2:c.7328A>C	XP_016885090.1:p.Gln2443Pro
XM_017029602.1:c.7298A>C	XP_016885091.1:p.Gln2433Pro
XM_017029603.1:c.7250A>C	XP_016885092.1:p.Gln2417Pro
XM_017029604.2:c.7217A>C	XP_016885093.1:p.Gln2406Pro
XM_017029605.1:c.7214A>C	XP_016885094.1:p.Gln2405Pro
XM_017029606.2:c.7187A>C	XP_016885095.1:p.Gln2396Pro
XM_017029607.2:c.7184A>C	XP_016885096.1:p.Gln2395Pro
XM_017029608.2:c.7136A>C	XP_016885097.1:p.Gln2379Pro
XM_017029609.1:c.7100A>C	XP_016885098.1:p.Gln2367Pro
XM_017029610.1:c.7097A>C	XP_016885099.1:p.Gln2366Pro
XM_017029611.1:c.7052A>C	XP_016885100.1:p.Gln2351Pro
XR_001755700.2:n.7717A>C
NM_138270.4:c.7304A>C	NP_612114.2:p.Gln2435Pro
NM_000489.6:c.7418A>C MANE Select	NP_000480.3:p.Gln2473Pro
NM_138270.5:c.7304A>C	NP_612114.2:p.Gln2435Pro