Canonical Allele Identifier: CA413703447

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7462C>T MANE Select	ENSP00000362441.4:p.Gln2488Ter
ENST00000675732.1:c.2560C>T	ENSP00000502598.1:p.Gln854Ter
ENST00000373344.9:c.7462C>T	ENSP00000362441.4:p.Gln2488Ter
ENST00000395603.7:c.7348C>T	ENSP00000378967.3:p.Gln2450Ter
ENST00000480283.5:c.*7090C>T	ENSP00000480196.1:n.*7090C>T
ENST00000623706.3:n.5782C>T
NM_000489.4:c.7462C>T	NP_000480.3:p.Gln2488Ter
NM_138270.3:c.7348C>T	NP_612114.2:p.Gln2450Ter
XM_005262153.3:c.7459C>T	XP_005262210.2:p.Gln2487Ter
XM_005262154.3:c.7375C>T	XP_005262211.2:p.Gln2459Ter
XM_005262155.3:c.7345C>T	XP_005262212.2:p.Gln2449Ter
XM_005262156.3:c.7297C>T	XP_005262213.2:p.Gln2433Ter
XM_005262157.3:c.7258C>T	XP_005262214.2:p.Gln2420Ter
XM_006724666.2:c.7345C>T	XP_006724729.1:p.Gln2449Ter
XM_006724667.2:c.7183C>T	XP_006724730.1:p.Gln2395Ter
XR_938400.1:n.9054C>T
NM_000489.5:c.7462C>T	NP_000480.3:p.Gln2488Ter
XM_005262153.5:c.7459C>T	XP_005262210.2:p.Gln2487Ter
XM_005262154.5:c.7375C>T	XP_005262211.2:p.Gln2459Ter
XM_005262155.4:c.7345C>T	XP_005262212.2:p.Gln2449Ter
XM_005262156.4:c.7297C>T	XP_005262213.2:p.Gln2433Ter
XM_005262157.5:c.7258C>T	XP_005262214.2:p.Gln2420Ter
XM_006724666.4:c.7345C>T	XP_006724729.1:p.Gln2449Ter
XM_006724667.3:c.7183C>T	XP_006724730.1:p.Gln2395Ter
XM_017029601.2:c.7372C>T	XP_016885090.1:p.Gln2458Ter
XM_017029602.1:c.7342C>T	XP_016885091.1:p.Gln2448Ter
XM_017029603.1:c.7294C>T	XP_016885092.1:p.Gln2432Ter
XM_017029604.2:c.7261C>T	XP_016885093.1:p.Gln2421Ter
XM_017029605.1:c.7258C>T	XP_016885094.1:p.Gln2420Ter
XM_017029606.2:c.7231C>T	XP_016885095.1:p.Gln2411Ter
XM_017029607.2:c.7228C>T	XP_016885096.1:p.Gln2410Ter
XM_017029608.2:c.7180C>T	XP_016885097.1:p.Gln2394Ter
XM_017029609.1:c.7144C>T	XP_016885098.1:p.Gln2382Ter
XM_017029610.1:c.7141C>T	XP_016885099.1:p.Gln2381Ter
XM_017029611.1:c.7096C>T	XP_016885100.1:p.Gln2366Ter
XR_001755700.2:n.7761C>T
NM_138270.4:c.7348C>T	NP_612114.2:p.Gln2450Ter
NM_000489.6:c.7462C>T MANE Select	NP_000480.3:p.Gln2488Ter
NM_138270.5:c.7348C>T	NP_612114.2:p.Gln2450Ter