Canonical Allele Identifier: CA413700977

Gene: ATRX

Linked Data

• gnomAD v4: X-77574283-C-T
• MyVariant Identifiers: chrX:g.76829748C>T (hg19) ; chrX:g.77574283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574283C>T , CM000685.2:g.77574283C>T	GRCh38
NC_000023.10:g.76829748C>T , CM000685.1:g.76829748C>T	GRCh37
NC_000023.9:g.76716404C>T	NCBI36
NG_008838.2:g.216939G>A
NG_008838.3:g.216987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6293G>A MANE Select	ENSP00000362441.4:p.Trp2098Ter
ENST00000675732.1:c.1391G>A	ENSP00000502598.1:p.Trp464Ter
ENST00000373344.9:c.6293G>A	ENSP00000362441.4:p.Trp2098Ter
ENST00000395603.7:c.6179G>A	ENSP00000378967.3:p.Trp2060Ter
ENST00000480283.5:c.*5921G>A	ENSP00000480196.1:n.*5921G>A
ENST00000623316.1:c.777G>A
ENST00000623706.3:n.3363G>A
NM_000489.4:c.6293G>A	NP_000480.3:p.Trp2098Ter
NM_138270.3:c.6179G>A	NP_612114.2:p.Trp2060Ter
XM_005262153.3:c.6290G>A	XP_005262210.2:p.Trp2097Ter
XM_005262154.3:c.6206G>A	XP_005262211.2:p.Trp2069Ter
XM_005262155.3:c.6176G>A	XP_005262212.2:p.Trp2059Ter
XM_005262156.3:c.6128G>A	XP_005262213.2:p.Trp2043Ter
XM_005262157.3:c.6089G>A	XP_005262214.2:p.Trp2030Ter
XM_006724666.2:c.6176G>A	XP_006724729.1:p.Trp2059Ter
XM_006724667.2:c.6014G>A	XP_006724730.1:p.Trp2005Ter
XR_938400.1:n.6635G>A
NM_000489.5:c.6293G>A	NP_000480.3:p.Trp2098Ter
XM_005262153.5:c.6290G>A	XP_005262210.2:p.Trp2097Ter
XM_005262154.5:c.6206G>A	XP_005262211.2:p.Trp2069Ter
XM_005262155.4:c.6176G>A	XP_005262212.2:p.Trp2059Ter
XM_005262156.4:c.6128G>A	XP_005262213.2:p.Trp2043Ter
XM_005262157.5:c.6089G>A	XP_005262214.2:p.Trp2030Ter
XM_006724666.4:c.6176G>A	XP_006724729.1:p.Trp2059Ter
XM_006724667.3:c.6014G>A	XP_006724730.1:p.Trp2005Ter
XM_017029601.2:c.6203G>A	XP_016885090.1:p.Trp2068Ter
XM_017029602.1:c.6173G>A	XP_016885091.1:p.Trp2058Ter
XM_017029603.1:c.6125G>A	XP_016885092.1:p.Trp2042Ter
XM_017029604.2:c.6092G>A	XP_016885093.1:p.Trp2031Ter
XM_017029605.1:c.6089G>A	XP_016885094.1:p.Trp2030Ter
XM_017029606.2:c.6062G>A	XP_016885095.1:p.Trp2021Ter
XM_017029607.2:c.6059G>A	XP_016885096.1:p.Trp2020Ter
XM_017029608.2:c.6011G>A	XP_016885097.1:p.Trp2004Ter
XM_017029609.1:c.5975G>A	XP_016885098.1:p.Trp1992Ter
XM_017029610.1:c.5972G>A	XP_016885099.1:p.Trp1991Ter
XM_017029611.1:c.5927G>A	XP_016885100.1:p.Trp1976Ter
XR_001755700.2:n.6592G>A
NM_138270.4:c.6179G>A	NP_612114.2:p.Trp2060Ter
NM_000489.6:c.6293G>A MANE Select	NP_000480.3:p.Trp2098Ter
NM_138270.5:c.6179G>A	NP_612114.2:p.Trp2060Ter