Canonical Allele Identifier: CA413703537

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763862T>G (hg19) ; chrX:g.77508384T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508384T>G , CM000685.2:g.77508384T>G	GRCh38
NC_000023.10:g.76763862T>G , CM000685.1:g.76763862T>G	GRCh37
NC_000023.9:g.76650518T>G	NCBI36
NG_008838.2:g.282838A>C
NG_008838.3:g.282886A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7446A>C MANE Select	ENSP00000362441.4:p.Lys2482Asn
ENST00000675732.1:c.2544A>C	ENSP00000502598.1:p.Lys848Asn
ENST00000373344.9:c.7446A>C	ENSP00000362441.4:p.Lys2482Asn
ENST00000395603.7:c.7332A>C	ENSP00000378967.3:p.Lys2444Asn
ENST00000480283.5:c.*7074A>C	ENSP00000480196.1:n.*7074A>C
ENST00000623706.3:n.5766A>C
NM_000489.4:c.7446A>C	NP_000480.3:p.Lys2482Asn
NM_138270.3:c.7332A>C	NP_612114.2:p.Lys2444Asn
XM_005262153.3:c.7443A>C	XP_005262210.2:p.Lys2481Asn
XM_005262154.3:c.7359A>C	XP_005262211.2:p.Lys2453Asn
XM_005262155.3:c.7329A>C	XP_005262212.2:p.Lys2443Asn
XM_005262156.3:c.7281A>C	XP_005262213.2:p.Lys2427Asn
XM_005262157.3:c.7242A>C	XP_005262214.2:p.Lys2414Asn
XM_006724666.2:c.7329A>C	XP_006724729.1:p.Lys2443Asn
XM_006724667.2:c.7167A>C	XP_006724730.1:p.Lys2389Asn
XR_938400.1:n.9038A>C
NM_000489.5:c.7446A>C	NP_000480.3:p.Lys2482Asn
XM_005262153.5:c.7443A>C	XP_005262210.2:p.Lys2481Asn
XM_005262154.5:c.7359A>C	XP_005262211.2:p.Lys2453Asn
XM_005262155.4:c.7329A>C	XP_005262212.2:p.Lys2443Asn
XM_005262156.4:c.7281A>C	XP_005262213.2:p.Lys2427Asn
XM_005262157.5:c.7242A>C	XP_005262214.2:p.Lys2414Asn
XM_006724666.4:c.7329A>C	XP_006724729.1:p.Lys2443Asn
XM_006724667.3:c.7167A>C	XP_006724730.1:p.Lys2389Asn
XM_017029601.2:c.7356A>C	XP_016885090.1:p.Lys2452Asn
XM_017029602.1:c.7326A>C	XP_016885091.1:p.Lys2442Asn
XM_017029603.1:c.7278A>C	XP_016885092.1:p.Lys2426Asn
XM_017029604.2:c.7245A>C	XP_016885093.1:p.Lys2415Asn
XM_017029605.1:c.7242A>C	XP_016885094.1:p.Lys2414Asn
XM_017029606.2:c.7215A>C	XP_016885095.1:p.Lys2405Asn
XM_017029607.2:c.7212A>C	XP_016885096.1:p.Lys2404Asn
XM_017029608.2:c.7164A>C	XP_016885097.1:p.Lys2388Asn
XM_017029609.1:c.7128A>C	XP_016885098.1:p.Lys2376Asn
XM_017029610.1:c.7125A>C	XP_016885099.1:p.Lys2375Asn
XM_017029611.1:c.7080A>C	XP_016885100.1:p.Lys2360Asn
XR_001755700.2:n.7745A>C
NM_138270.4:c.7332A>C	NP_612114.2:p.Lys2444Asn
NM_000489.6:c.7446A>C MANE Select	NP_000480.3:p.Lys2482Asn
NM_138270.5:c.7332A>C	NP_612114.2:p.Lys2444Asn