Canonical Allele Identifier: CA413700939

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829739T>G (hg19) ; chrX:g.77574274T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574274T>G , CM000685.2:g.77574274T>G	GRCh38
NC_000023.10:g.76829739T>G , CM000685.1:g.76829739T>G	GRCh37
NC_000023.9:g.76716395T>G	NCBI36
NG_008838.2:g.216948A>C
NG_008838.3:g.216996A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6302A>C MANE Select	ENSP00000362441.4:p.Glu2101Ala
ENST00000675732.1:c.1400A>C	ENSP00000502598.1:p.Glu467Ala
ENST00000373344.9:c.6302A>C	ENSP00000362441.4:p.Glu2101Ala
ENST00000395603.7:c.6188A>C	ENSP00000378967.3:p.Glu2063Ala
ENST00000480283.5:c.*5930A>C	ENSP00000480196.1:n.*5930A>C
ENST00000623316.1:c.786A>C
ENST00000623706.3:n.3372A>C
NM_000489.4:c.6302A>C	NP_000480.3:p.Glu2101Ala
NM_138270.3:c.6188A>C	NP_612114.2:p.Glu2063Ala
XM_005262153.3:c.6299A>C	XP_005262210.2:p.Glu2100Ala
XM_005262154.3:c.6215A>C	XP_005262211.2:p.Glu2072Ala
XM_005262155.3:c.6185A>C	XP_005262212.2:p.Glu2062Ala
XM_005262156.3:c.6137A>C	XP_005262213.2:p.Glu2046Ala
XM_005262157.3:c.6098A>C	XP_005262214.2:p.Glu2033Ala
XM_006724666.2:c.6185A>C	XP_006724729.1:p.Glu2062Ala
XM_006724667.2:c.6023A>C	XP_006724730.1:p.Glu2008Ala
XR_938400.1:n.6644A>C
NM_000489.5:c.6302A>C	NP_000480.3:p.Glu2101Ala
XM_005262153.5:c.6299A>C	XP_005262210.2:p.Glu2100Ala
XM_005262154.5:c.6215A>C	XP_005262211.2:p.Glu2072Ala
XM_005262155.4:c.6185A>C	XP_005262212.2:p.Glu2062Ala
XM_005262156.4:c.6137A>C	XP_005262213.2:p.Glu2046Ala
XM_005262157.5:c.6098A>C	XP_005262214.2:p.Glu2033Ala
XM_006724666.4:c.6185A>C	XP_006724729.1:p.Glu2062Ala
XM_006724667.3:c.6023A>C	XP_006724730.1:p.Glu2008Ala
XM_017029601.2:c.6212A>C	XP_016885090.1:p.Glu2071Ala
XM_017029602.1:c.6182A>C	XP_016885091.1:p.Glu2061Ala
XM_017029603.1:c.6134A>C	XP_016885092.1:p.Glu2045Ala
XM_017029604.2:c.6101A>C	XP_016885093.1:p.Glu2034Ala
XM_017029605.1:c.6098A>C	XP_016885094.1:p.Glu2033Ala
XM_017029606.2:c.6071A>C	XP_016885095.1:p.Glu2024Ala
XM_017029607.2:c.6068A>C	XP_016885096.1:p.Glu2023Ala
XM_017029608.2:c.6020A>C	XP_016885097.1:p.Glu2007Ala
XM_017029609.1:c.5984A>C	XP_016885098.1:p.Glu1995Ala
XM_017029610.1:c.5981A>C	XP_016885099.1:p.Glu1994Ala
XM_017029611.1:c.5936A>C	XP_016885100.1:p.Glu1979Ala
XR_001755700.2:n.6601A>C
NM_138270.4:c.6188A>C	NP_612114.2:p.Glu2063Ala
NM_000489.6:c.6302A>C MANE Select	NP_000480.3:p.Glu2101Ala
NM_138270.5:c.6188A>C	NP_612114.2:p.Glu2063Ala