Canonical Allele Identifier: CA413701230

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829797C>A (hg19) ; chrX:g.77574332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574332C>A , CM000685.2:g.77574332C>A	GRCh38
NC_000023.10:g.76829797C>A , CM000685.1:g.76829797C>A	GRCh37
NC_000023.9:g.76716453C>A	NCBI36
NG_008838.2:g.216890G>T
NG_008838.3:g.216938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6244G>T MANE Select	ENSP00000362441.4:p.Asp2082Tyr
ENST00000636152.1:n.79G>T
ENST00000675732.1:c.1342G>T	ENSP00000502598.1:p.Asp448Tyr
ENST00000373344.9:c.6244G>T	ENSP00000362441.4:p.Asp2082Tyr
ENST00000395603.7:c.6130G>T	ENSP00000378967.3:p.Asp2044Tyr
ENST00000480283.5:c.*5872G>T	ENSP00000480196.1:n.*5872G>T
ENST00000623316.1:c.728G>T
ENST00000623706.3:n.3314G>T
NM_000489.4:c.6244G>T	NP_000480.3:p.Asp2082Tyr
NM_138270.3:c.6130G>T	NP_612114.2:p.Asp2044Tyr
XM_005262153.3:c.6241G>T	XP_005262210.2:p.Asp2081Tyr
XM_005262154.3:c.6157G>T	XP_005262211.2:p.Asp2053Tyr
XM_005262155.3:c.6127G>T	XP_005262212.2:p.Asp2043Tyr
XM_005262156.3:c.6079G>T	XP_005262213.2:p.Asp2027Tyr
XM_005262157.3:c.6040G>T	XP_005262214.2:p.Asp2014Tyr
XM_006724666.2:c.6127G>T	XP_006724729.1:p.Asp2043Tyr
XM_006724667.2:c.5965G>T	XP_006724730.1:p.Asp1989Tyr
XR_938400.1:n.6586G>T
NM_000489.5:c.6244G>T	NP_000480.3:p.Asp2082Tyr
XM_005262153.5:c.6241G>T	XP_005262210.2:p.Asp2081Tyr
XM_005262154.5:c.6157G>T	XP_005262211.2:p.Asp2053Tyr
XM_005262155.4:c.6127G>T	XP_005262212.2:p.Asp2043Tyr
XM_005262156.4:c.6079G>T	XP_005262213.2:p.Asp2027Tyr
XM_005262157.5:c.6040G>T	XP_005262214.2:p.Asp2014Tyr
XM_006724666.4:c.6127G>T	XP_006724729.1:p.Asp2043Tyr
XM_006724667.3:c.5965G>T	XP_006724730.1:p.Asp1989Tyr
XM_017029601.2:c.6154G>T	XP_016885090.1:p.Asp2052Tyr
XM_017029602.1:c.6124G>T	XP_016885091.1:p.Asp2042Tyr
XM_017029603.1:c.6076G>T	XP_016885092.1:p.Asp2026Tyr
XM_017029604.2:c.6043G>T	XP_016885093.1:p.Asp2015Tyr
XM_017029605.1:c.6040G>T	XP_016885094.1:p.Asp2014Tyr
XM_017029606.2:c.6013G>T	XP_016885095.1:p.Asp2005Tyr
XM_017029607.2:c.6010G>T	XP_016885096.1:p.Asp2004Tyr
XM_017029608.2:c.5962G>T	XP_016885097.1:p.Asp1988Tyr
XM_017029609.1:c.5926G>T	XP_016885098.1:p.Asp1976Tyr
XM_017029610.1:c.5923G>T	XP_016885099.1:p.Asp1975Tyr
XM_017029611.1:c.5878G>T	XP_016885100.1:p.Asp1960Tyr
XR_001755700.2:n.6543G>T
NM_138270.4:c.6130G>T	NP_612114.2:p.Asp2044Tyr
NM_000489.6:c.6244G>T MANE Select	NP_000480.3:p.Asp2082Tyr
NM_138270.5:c.6130G>T	NP_612114.2:p.Asp2044Tyr