Canonical Allele Identifier: CA413703774

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763891G>C (hg19) ; chrX:g.77508413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508413G>C , CM000685.2:g.77508413G>C	GRCh38
NC_000023.10:g.76763891G>C , CM000685.1:g.76763891G>C	GRCh37
NC_000023.9:g.76650547G>C	NCBI36
NG_008838.2:g.282809C>G
NG_008838.3:g.282857C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7417C>G MANE Select	ENSP00000362441.4:p.Gln2473Glu
ENST00000675732.1:c.2515C>G	ENSP00000502598.1:p.Gln839Glu
ENST00000373344.9:c.7417C>G	ENSP00000362441.4:p.Gln2473Glu
ENST00000395603.7:c.7303C>G	ENSP00000378967.3:p.Gln2435Glu
ENST00000480283.5:c.*7045C>G	ENSP00000480196.1:n.*7045C>G
ENST00000623706.3:n.5737C>G
NM_000489.4:c.7417C>G	NP_000480.3:p.Gln2473Glu
NM_138270.3:c.7303C>G	NP_612114.2:p.Gln2435Glu
XM_005262153.3:c.7414C>G	XP_005262210.2:p.Gln2472Glu
XM_005262154.3:c.7330C>G	XP_005262211.2:p.Gln2444Glu
XM_005262155.3:c.7300C>G	XP_005262212.2:p.Gln2434Glu
XM_005262156.3:c.7252C>G	XP_005262213.2:p.Gln2418Glu
XM_005262157.3:c.7213C>G	XP_005262214.2:p.Gln2405Glu
XM_006724666.2:c.7300C>G	XP_006724729.1:p.Gln2434Glu
XM_006724667.2:c.7138C>G	XP_006724730.1:p.Gln2380Glu
XR_938400.1:n.9009C>G
NM_000489.5:c.7417C>G	NP_000480.3:p.Gln2473Glu
XM_005262153.5:c.7414C>G	XP_005262210.2:p.Gln2472Glu
XM_005262154.5:c.7330C>G	XP_005262211.2:p.Gln2444Glu
XM_005262155.4:c.7300C>G	XP_005262212.2:p.Gln2434Glu
XM_005262156.4:c.7252C>G	XP_005262213.2:p.Gln2418Glu
XM_005262157.5:c.7213C>G	XP_005262214.2:p.Gln2405Glu
XM_006724666.4:c.7300C>G	XP_006724729.1:p.Gln2434Glu
XM_006724667.3:c.7138C>G	XP_006724730.1:p.Gln2380Glu
XM_017029601.2:c.7327C>G	XP_016885090.1:p.Gln2443Glu
XM_017029602.1:c.7297C>G	XP_016885091.1:p.Gln2433Glu
XM_017029603.1:c.7249C>G	XP_016885092.1:p.Gln2417Glu
XM_017029604.2:c.7216C>G	XP_016885093.1:p.Gln2406Glu
XM_017029605.1:c.7213C>G	XP_016885094.1:p.Gln2405Glu
XM_017029606.2:c.7186C>G	XP_016885095.1:p.Gln2396Glu
XM_017029607.2:c.7183C>G	XP_016885096.1:p.Gln2395Glu
XM_017029608.2:c.7135C>G	XP_016885097.1:p.Gln2379Glu
XM_017029609.1:c.7099C>G	XP_016885098.1:p.Gln2367Glu
XM_017029610.1:c.7096C>G	XP_016885099.1:p.Gln2366Glu
XM_017029611.1:c.7051C>G	XP_016885100.1:p.Gln2351Glu
XR_001755700.2:n.7716C>G
NM_138270.4:c.7303C>G	NP_612114.2:p.Gln2435Glu
NM_000489.6:c.7417C>G MANE Select	NP_000480.3:p.Gln2473Glu
NM_138270.5:c.7303C>G	NP_612114.2:p.Gln2435Glu