Canonical Allele Identifier: CA413701235

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829799A>G (hg19) ; chrX:g.77574334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574334A>G , CM000685.2:g.77574334A>G	GRCh38
NC_000023.10:g.76829799A>G , CM000685.1:g.76829799A>G	GRCh37
NC_000023.9:g.76716455A>G	NCBI36
NG_008838.2:g.216888T>C
NG_008838.3:g.216936T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6242T>C MANE Select	ENSP00000362441.4:p.Ile2081Thr
ENST00000636152.1:n.77T>C
ENST00000675732.1:c.1340T>C	ENSP00000502598.1:p.Ile447Thr
ENST00000373344.9:c.6242T>C	ENSP00000362441.4:p.Ile2081Thr
ENST00000395603.7:c.6128T>C	ENSP00000378967.3:p.Ile2043Thr
ENST00000480283.5:c.*5870T>C	ENSP00000480196.1:n.*5870T>C
ENST00000623316.1:c.726T>C
ENST00000623706.3:n.3312T>C
NM_000489.4:c.6242T>C	NP_000480.3:p.Ile2081Thr
NM_138270.3:c.6128T>C	NP_612114.2:p.Ile2043Thr
XM_005262153.3:c.6239T>C	XP_005262210.2:p.Ile2080Thr
XM_005262154.3:c.6155T>C	XP_005262211.2:p.Ile2052Thr
XM_005262155.3:c.6125T>C	XP_005262212.2:p.Ile2042Thr
XM_005262156.3:c.6077T>C	XP_005262213.2:p.Ile2026Thr
XM_005262157.3:c.6038T>C	XP_005262214.2:p.Ile2013Thr
XM_006724666.2:c.6125T>C	XP_006724729.1:p.Ile2042Thr
XM_006724667.2:c.5963T>C	XP_006724730.1:p.Ile1988Thr
XR_938400.1:n.6584T>C
NM_000489.5:c.6242T>C	NP_000480.3:p.Ile2081Thr
XM_005262153.5:c.6239T>C	XP_005262210.2:p.Ile2080Thr
XM_005262154.5:c.6155T>C	XP_005262211.2:p.Ile2052Thr
XM_005262155.4:c.6125T>C	XP_005262212.2:p.Ile2042Thr
XM_005262156.4:c.6077T>C	XP_005262213.2:p.Ile2026Thr
XM_005262157.5:c.6038T>C	XP_005262214.2:p.Ile2013Thr
XM_006724666.4:c.6125T>C	XP_006724729.1:p.Ile2042Thr
XM_006724667.3:c.5963T>C	XP_006724730.1:p.Ile1988Thr
XM_017029601.2:c.6152T>C	XP_016885090.1:p.Ile2051Thr
XM_017029602.1:c.6122T>C	XP_016885091.1:p.Ile2041Thr
XM_017029603.1:c.6074T>C	XP_016885092.1:p.Ile2025Thr
XM_017029604.2:c.6041T>C	XP_016885093.1:p.Ile2014Thr
XM_017029605.1:c.6038T>C	XP_016885094.1:p.Ile2013Thr
XM_017029606.2:c.6011T>C	XP_016885095.1:p.Ile2004Thr
XM_017029607.2:c.6008T>C	XP_016885096.1:p.Ile2003Thr
XM_017029608.2:c.5960T>C	XP_016885097.1:p.Ile1987Thr
XM_017029609.1:c.5924T>C	XP_016885098.1:p.Ile1975Thr
XM_017029610.1:c.5921T>C	XP_016885099.1:p.Ile1974Thr
XM_017029611.1:c.5876T>C	XP_016885100.1:p.Ile1959Thr
XR_001755700.2:n.6541T>C
NM_138270.4:c.6128T>C	NP_612114.2:p.Ile2043Thr
NM_000489.6:c.6242T>C MANE Select	NP_000480.3:p.Ile2081Thr
NM_138270.5:c.6128T>C	NP_612114.2:p.Ile2043Thr