Canonical Allele Identifier: CA413703450

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763846G>C (hg19) ; chrX:g.77508368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508368G>C , CM000685.2:g.77508368G>C	GRCh38
NC_000023.10:g.76763846G>C , CM000685.1:g.76763846G>C	GRCh37
NC_000023.9:g.76650502G>C	NCBI36
NG_008838.2:g.282854C>G
NG_008838.3:g.282902C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7462C>G MANE Select	ENSP00000362441.4:p.Gln2488Glu
ENST00000675732.1:c.2560C>G	ENSP00000502598.1:p.Gln854Glu
ENST00000373344.9:c.7462C>G	ENSP00000362441.4:p.Gln2488Glu
ENST00000395603.7:c.7348C>G	ENSP00000378967.3:p.Gln2450Glu
ENST00000480283.5:c.*7090C>G	ENSP00000480196.1:n.*7090C>G
ENST00000623706.3:n.5782C>G
NM_000489.4:c.7462C>G	NP_000480.3:p.Gln2488Glu
NM_138270.3:c.7348C>G	NP_612114.2:p.Gln2450Glu
XM_005262153.3:c.7459C>G	XP_005262210.2:p.Gln2487Glu
XM_005262154.3:c.7375C>G	XP_005262211.2:p.Gln2459Glu
XM_005262155.3:c.7345C>G	XP_005262212.2:p.Gln2449Glu
XM_005262156.3:c.7297C>G	XP_005262213.2:p.Gln2433Glu
XM_005262157.3:c.7258C>G	XP_005262214.2:p.Gln2420Glu
XM_006724666.2:c.7345C>G	XP_006724729.1:p.Gln2449Glu
XM_006724667.2:c.7183C>G	XP_006724730.1:p.Gln2395Glu
XR_938400.1:n.9054C>G
NM_000489.5:c.7462C>G	NP_000480.3:p.Gln2488Glu
XM_005262153.5:c.7459C>G	XP_005262210.2:p.Gln2487Glu
XM_005262154.5:c.7375C>G	XP_005262211.2:p.Gln2459Glu
XM_005262155.4:c.7345C>G	XP_005262212.2:p.Gln2449Glu
XM_005262156.4:c.7297C>G	XP_005262213.2:p.Gln2433Glu
XM_005262157.5:c.7258C>G	XP_005262214.2:p.Gln2420Glu
XM_006724666.4:c.7345C>G	XP_006724729.1:p.Gln2449Glu
XM_006724667.3:c.7183C>G	XP_006724730.1:p.Gln2395Glu
XM_017029601.2:c.7372C>G	XP_016885090.1:p.Gln2458Glu
XM_017029602.1:c.7342C>G	XP_016885091.1:p.Gln2448Glu
XM_017029603.1:c.7294C>G	XP_016885092.1:p.Gln2432Glu
XM_017029604.2:c.7261C>G	XP_016885093.1:p.Gln2421Glu
XM_017029605.1:c.7258C>G	XP_016885094.1:p.Gln2420Glu
XM_017029606.2:c.7231C>G	XP_016885095.1:p.Gln2411Glu
XM_017029607.2:c.7228C>G	XP_016885096.1:p.Gln2410Glu
XM_017029608.2:c.7180C>G	XP_016885097.1:p.Gln2394Glu
XM_017029609.1:c.7144C>G	XP_016885098.1:p.Gln2382Glu
XM_017029610.1:c.7141C>G	XP_016885099.1:p.Gln2381Glu
XM_017029611.1:c.7096C>G	XP_016885100.1:p.Gln2366Glu
XR_001755700.2:n.7761C>G
NM_138270.4:c.7348C>G	NP_612114.2:p.Gln2450Glu
NM_000489.6:c.7462C>G MANE Select	NP_000480.3:p.Gln2488Glu
NM_138270.5:c.7348C>G	NP_612114.2:p.Gln2450Glu