Canonical Allele Identifier: CA413704378

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763977A>C (hg19) ; chrX:g.77508499A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508499A>C , CM000685.2:g.77508499A>C	GRCh38
NC_000023.10:g.76763977A>C , CM000685.1:g.76763977A>C	GRCh37
NC_000023.9:g.76650633A>C	NCBI36
NG_008838.2:g.282723T>G
NG_008838.3:g.282771T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7331T>G MANE Select	ENSP00000362441.4:p.Leu2444Trp
ENST00000675732.1:c.2429T>G	ENSP00000502598.1:p.Leu810Trp
ENST00000373344.9:c.7331T>G	ENSP00000362441.4:p.Leu2444Trp
ENST00000395603.7:c.7217T>G	ENSP00000378967.3:p.Leu2406Trp
ENST00000480283.5:c.*6959T>G	ENSP00000480196.1:n.*6959T>G
ENST00000623706.3:n.5651T>G
ENST00000624766.1:n.562T>G
NM_000489.4:c.7331T>G	NP_000480.3:p.Leu2444Trp
NM_138270.3:c.7217T>G	NP_612114.2:p.Leu2406Trp
XM_005262153.3:c.7328T>G	XP_005262210.2:p.Leu2443Trp
XM_005262154.3:c.7244T>G	XP_005262211.2:p.Leu2415Trp
XM_005262155.3:c.7214T>G	XP_005262212.2:p.Leu2405Trp
XM_005262156.3:c.7166T>G	XP_005262213.2:p.Leu2389Trp
XM_005262157.3:c.7127T>G	XP_005262214.2:p.Leu2376Trp
XM_006724666.2:c.7214T>G	XP_006724729.1:p.Leu2405Trp
XM_006724667.2:c.7052T>G	XP_006724730.1:p.Leu2351Trp
XR_938400.1:n.8923T>G
NM_000489.5:c.7331T>G	NP_000480.3:p.Leu2444Trp
XM_005262153.5:c.7328T>G	XP_005262210.2:p.Leu2443Trp
XM_005262154.5:c.7244T>G	XP_005262211.2:p.Leu2415Trp
XM_005262155.4:c.7214T>G	XP_005262212.2:p.Leu2405Trp
XM_005262156.4:c.7166T>G	XP_005262213.2:p.Leu2389Trp
XM_005262157.5:c.7127T>G	XP_005262214.2:p.Leu2376Trp
XM_006724666.4:c.7214T>G	XP_006724729.1:p.Leu2405Trp
XM_006724667.3:c.7052T>G	XP_006724730.1:p.Leu2351Trp
XM_017029601.2:c.7241T>G	XP_016885090.1:p.Leu2414Trp
XM_017029602.1:c.7211T>G	XP_016885091.1:p.Leu2404Trp
XM_017029603.1:c.7163T>G	XP_016885092.1:p.Leu2388Trp
XM_017029604.2:c.7130T>G	XP_016885093.1:p.Leu2377Trp
XM_017029605.1:c.7127T>G	XP_016885094.1:p.Leu2376Trp
XM_017029606.2:c.7100T>G	XP_016885095.1:p.Leu2367Trp
XM_017029607.2:c.7097T>G	XP_016885096.1:p.Leu2366Trp
XM_017029608.2:c.7049T>G	XP_016885097.1:p.Leu2350Trp
XM_017029609.1:c.7013T>G	XP_016885098.1:p.Leu2338Trp
XM_017029610.1:c.7010T>G	XP_016885099.1:p.Leu2337Trp
XM_017029611.1:c.6965T>G	XP_016885100.1:p.Leu2322Trp
XR_001755700.2:n.7630T>G
NM_138270.4:c.7217T>G	NP_612114.2:p.Leu2406Trp
NM_000489.6:c.7331T>G MANE Select	NP_000480.3:p.Leu2444Trp
NM_138270.5:c.7217T>G	NP_612114.2:p.Leu2406Trp