Canonical Allele Identifier: CA413703773

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7417C>A MANE Select	ENSP00000362441.4:p.Gln2473Lys
ENST00000675732.1:c.2515C>A	ENSP00000502598.1:p.Gln839Lys
ENST00000373344.9:c.7417C>A	ENSP00000362441.4:p.Gln2473Lys
ENST00000395603.7:c.7303C>A	ENSP00000378967.3:p.Gln2435Lys
ENST00000480283.5:c.*7045C>A	ENSP00000480196.1:n.*7045C>A
ENST00000623706.3:n.5737C>A
NM_000489.4:c.7417C>A	NP_000480.3:p.Gln2473Lys
NM_138270.3:c.7303C>A	NP_612114.2:p.Gln2435Lys
XM_005262153.3:c.7414C>A	XP_005262210.2:p.Gln2472Lys
XM_005262154.3:c.7330C>A	XP_005262211.2:p.Gln2444Lys
XM_005262155.3:c.7300C>A	XP_005262212.2:p.Gln2434Lys
XM_005262156.3:c.7252C>A	XP_005262213.2:p.Gln2418Lys
XM_005262157.3:c.7213C>A	XP_005262214.2:p.Gln2405Lys
XM_006724666.2:c.7300C>A	XP_006724729.1:p.Gln2434Lys
XM_006724667.2:c.7138C>A	XP_006724730.1:p.Gln2380Lys
XR_938400.1:n.9009C>A
NM_000489.5:c.7417C>A	NP_000480.3:p.Gln2473Lys
XM_005262153.5:c.7414C>A	XP_005262210.2:p.Gln2472Lys
XM_005262154.5:c.7330C>A	XP_005262211.2:p.Gln2444Lys
XM_005262155.4:c.7300C>A	XP_005262212.2:p.Gln2434Lys
XM_005262156.4:c.7252C>A	XP_005262213.2:p.Gln2418Lys
XM_005262157.5:c.7213C>A	XP_005262214.2:p.Gln2405Lys
XM_006724666.4:c.7300C>A	XP_006724729.1:p.Gln2434Lys
XM_006724667.3:c.7138C>A	XP_006724730.1:p.Gln2380Lys
XM_017029601.2:c.7327C>A	XP_016885090.1:p.Gln2443Lys
XM_017029602.1:c.7297C>A	XP_016885091.1:p.Gln2433Lys
XM_017029603.1:c.7249C>A	XP_016885092.1:p.Gln2417Lys
XM_017029604.2:c.7216C>A	XP_016885093.1:p.Gln2406Lys
XM_017029605.1:c.7213C>A	XP_016885094.1:p.Gln2405Lys
XM_017029606.2:c.7186C>A	XP_016885095.1:p.Gln2396Lys
XM_017029607.2:c.7183C>A	XP_016885096.1:p.Gln2395Lys
XM_017029608.2:c.7135C>A	XP_016885097.1:p.Gln2379Lys
XM_017029609.1:c.7099C>A	XP_016885098.1:p.Gln2367Lys
XM_017029610.1:c.7096C>A	XP_016885099.1:p.Gln2366Lys
XM_017029611.1:c.7051C>A	XP_016885100.1:p.Gln2351Lys
XR_001755700.2:n.7716C>A
NM_138270.4:c.7303C>A	NP_612114.2:p.Gln2435Lys
NM_000489.6:c.7417C>A MANE Select	NP_000480.3:p.Gln2473Lys
NM_138270.5:c.7303C>A	NP_612114.2:p.Gln2435Lys