Canonical Allele Identifier: CA413703775

Gene: ATRX

Linked Data

• dbSNP Id: rs2147646700
• MyVariant Identifiers: chrX:g.76763891G>A (hg19) ; chrX:g.77508413G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7417C>T MANE Select	ENSP00000362441.4:p.Gln2473Ter
ENST00000675732.1:c.2515C>T	ENSP00000502598.1:p.Gln839Ter
ENST00000373344.9:c.7417C>T	ENSP00000362441.4:p.Gln2473Ter
ENST00000395603.7:c.7303C>T	ENSP00000378967.3:p.Gln2435Ter
ENST00000480283.5:c.*7045C>T	ENSP00000480196.1:n.*7045C>T
ENST00000623706.3:n.5737C>T
NM_000489.4:c.7417C>T	NP_000480.3:p.Gln2473Ter
NM_138270.3:c.7303C>T	NP_612114.2:p.Gln2435Ter
XM_005262153.3:c.7414C>T	XP_005262210.2:p.Gln2472Ter
XM_005262154.3:c.7330C>T	XP_005262211.2:p.Gln2444Ter
XM_005262155.3:c.7300C>T	XP_005262212.2:p.Gln2434Ter
XM_005262156.3:c.7252C>T	XP_005262213.2:p.Gln2418Ter
XM_005262157.3:c.7213C>T	XP_005262214.2:p.Gln2405Ter
XM_006724666.2:c.7300C>T	XP_006724729.1:p.Gln2434Ter
XM_006724667.2:c.7138C>T	XP_006724730.1:p.Gln2380Ter
XR_938400.1:n.9009C>T
NM_000489.5:c.7417C>T	NP_000480.3:p.Gln2473Ter
XM_005262153.5:c.7414C>T	XP_005262210.2:p.Gln2472Ter
XM_005262154.5:c.7330C>T	XP_005262211.2:p.Gln2444Ter
XM_005262155.4:c.7300C>T	XP_005262212.2:p.Gln2434Ter
XM_005262156.4:c.7252C>T	XP_005262213.2:p.Gln2418Ter
XM_005262157.5:c.7213C>T	XP_005262214.2:p.Gln2405Ter
XM_006724666.4:c.7300C>T	XP_006724729.1:p.Gln2434Ter
XM_006724667.3:c.7138C>T	XP_006724730.1:p.Gln2380Ter
XM_017029601.2:c.7327C>T	XP_016885090.1:p.Gln2443Ter
XM_017029602.1:c.7297C>T	XP_016885091.1:p.Gln2433Ter
XM_017029603.1:c.7249C>T	XP_016885092.1:p.Gln2417Ter
XM_017029604.2:c.7216C>T	XP_016885093.1:p.Gln2406Ter
XM_017029605.1:c.7213C>T	XP_016885094.1:p.Gln2405Ter
XM_017029606.2:c.7186C>T	XP_016885095.1:p.Gln2396Ter
XM_017029607.2:c.7183C>T	XP_016885096.1:p.Gln2395Ter
XM_017029608.2:c.7135C>T	XP_016885097.1:p.Gln2379Ter
XM_017029609.1:c.7099C>T	XP_016885098.1:p.Gln2367Ter
XM_017029610.1:c.7096C>T	XP_016885099.1:p.Gln2366Ter
XM_017029611.1:c.7051C>T	XP_016885100.1:p.Gln2351Ter
XR_001755700.2:n.7716C>T
NM_138270.4:c.7303C>T	NP_612114.2:p.Gln2435Ter
NM_000489.6:c.7417C>T MANE Select	NP_000480.3:p.Gln2473Ter
NM_138270.5:c.7303C>T	NP_612114.2:p.Gln2435Ter