Canonical Allele Identifier: CA413700954

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829743C>G (hg19) ; chrX:g.77574278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574278C>G , CM000685.2:g.77574278C>G	GRCh38
NC_000023.10:g.76829743C>G , CM000685.1:g.76829743C>G	GRCh37
NC_000023.9:g.76716399C>G	NCBI36
NG_008838.2:g.216944G>C
NG_008838.3:g.216992G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6298G>C MANE Select	ENSP00000362441.4:p.Glu2100Gln
ENST00000675732.1:c.1396G>C	ENSP00000502598.1:p.Glu466Gln
ENST00000373344.9:c.6298G>C	ENSP00000362441.4:p.Glu2100Gln
ENST00000395603.7:c.6184G>C	ENSP00000378967.3:p.Glu2062Gln
ENST00000480283.5:c.*5926G>C	ENSP00000480196.1:n.*5926G>C
ENST00000623316.1:c.782G>C
ENST00000623706.3:n.3368G>C
NM_000489.4:c.6298G>C	NP_000480.3:p.Glu2100Gln
NM_138270.3:c.6184G>C	NP_612114.2:p.Glu2062Gln
XM_005262153.3:c.6295G>C	XP_005262210.2:p.Glu2099Gln
XM_005262154.3:c.6211G>C	XP_005262211.2:p.Glu2071Gln
XM_005262155.3:c.6181G>C	XP_005262212.2:p.Glu2061Gln
XM_005262156.3:c.6133G>C	XP_005262213.2:p.Glu2045Gln
XM_005262157.3:c.6094G>C	XP_005262214.2:p.Glu2032Gln
XM_006724666.2:c.6181G>C	XP_006724729.1:p.Glu2061Gln
XM_006724667.2:c.6019G>C	XP_006724730.1:p.Glu2007Gln
XR_938400.1:n.6640G>C
NM_000489.5:c.6298G>C	NP_000480.3:p.Glu2100Gln
XM_005262153.5:c.6295G>C	XP_005262210.2:p.Glu2099Gln
XM_005262154.5:c.6211G>C	XP_005262211.2:p.Glu2071Gln
XM_005262155.4:c.6181G>C	XP_005262212.2:p.Glu2061Gln
XM_005262156.4:c.6133G>C	XP_005262213.2:p.Glu2045Gln
XM_005262157.5:c.6094G>C	XP_005262214.2:p.Glu2032Gln
XM_006724666.4:c.6181G>C	XP_006724729.1:p.Glu2061Gln
XM_006724667.3:c.6019G>C	XP_006724730.1:p.Glu2007Gln
XM_017029601.2:c.6208G>C	XP_016885090.1:p.Glu2070Gln
XM_017029602.1:c.6178G>C	XP_016885091.1:p.Glu2060Gln
XM_017029603.1:c.6130G>C	XP_016885092.1:p.Glu2044Gln
XM_017029604.2:c.6097G>C	XP_016885093.1:p.Glu2033Gln
XM_017029605.1:c.6094G>C	XP_016885094.1:p.Glu2032Gln
XM_017029606.2:c.6067G>C	XP_016885095.1:p.Glu2023Gln
XM_017029607.2:c.6064G>C	XP_016885096.1:p.Glu2022Gln
XM_017029608.2:c.6016G>C	XP_016885097.1:p.Glu2006Gln
XM_017029609.1:c.5980G>C	XP_016885098.1:p.Glu1994Gln
XM_017029610.1:c.5977G>C	XP_016885099.1:p.Glu1993Gln
XM_017029611.1:c.5932G>C	XP_016885100.1:p.Glu1978Gln
XR_001755700.2:n.6597G>C
NM_138270.4:c.6184G>C	NP_612114.2:p.Glu2062Gln
NM_000489.6:c.6298G>C MANE Select	NP_000480.3:p.Glu2100Gln
NM_138270.5:c.6184G>C	NP_612114.2:p.Glu2062Gln