Canonical Allele Identifier: CA413703974

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763920A>G (hg19) ; chrX:g.77508442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508442A>G , CM000685.2:g.77508442A>G	GRCh38
NC_000023.10:g.76763920A>G , CM000685.1:g.76763920A>G	GRCh37
NC_000023.9:g.76650576A>G	NCBI36
NG_008838.2:g.282780T>C
NG_008838.3:g.282828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7388T>C MANE Select	ENSP00000362441.4:p.Val2463Ala
ENST00000675732.1:c.2486T>C	ENSP00000502598.1:p.Val829Ala
ENST00000373344.9:c.7388T>C	ENSP00000362441.4:p.Val2463Ala
ENST00000395603.7:c.7274T>C	ENSP00000378967.3:p.Val2425Ala
ENST00000480283.5:c.*7016T>C	ENSP00000480196.1:n.*7016T>C
ENST00000623706.3:n.5708T>C
NM_000489.4:c.7388T>C	NP_000480.3:p.Val2463Ala
NM_138270.3:c.7274T>C	NP_612114.2:p.Val2425Ala
XM_005262153.3:c.7385T>C	XP_005262210.2:p.Val2462Ala
XM_005262154.3:c.7301T>C	XP_005262211.2:p.Val2434Ala
XM_005262155.3:c.7271T>C	XP_005262212.2:p.Val2424Ala
XM_005262156.3:c.7223T>C	XP_005262213.2:p.Val2408Ala
XM_005262157.3:c.7184T>C	XP_005262214.2:p.Val2395Ala
XM_006724666.2:c.7271T>C	XP_006724729.1:p.Val2424Ala
XM_006724667.2:c.7109T>C	XP_006724730.1:p.Val2370Ala
XR_938400.1:n.8980T>C
NM_000489.5:c.7388T>C	NP_000480.3:p.Val2463Ala
XM_005262153.5:c.7385T>C	XP_005262210.2:p.Val2462Ala
XM_005262154.5:c.7301T>C	XP_005262211.2:p.Val2434Ala
XM_005262155.4:c.7271T>C	XP_005262212.2:p.Val2424Ala
XM_005262156.4:c.7223T>C	XP_005262213.2:p.Val2408Ala
XM_005262157.5:c.7184T>C	XP_005262214.2:p.Val2395Ala
XM_006724666.4:c.7271T>C	XP_006724729.1:p.Val2424Ala
XM_006724667.3:c.7109T>C	XP_006724730.1:p.Val2370Ala
XM_017029601.2:c.7298T>C	XP_016885090.1:p.Val2433Ala
XM_017029602.1:c.7268T>C	XP_016885091.1:p.Val2423Ala
XM_017029603.1:c.7220T>C	XP_016885092.1:p.Val2407Ala
XM_017029604.2:c.7187T>C	XP_016885093.1:p.Val2396Ala
XM_017029605.1:c.7184T>C	XP_016885094.1:p.Val2395Ala
XM_017029606.2:c.7157T>C	XP_016885095.1:p.Val2386Ala
XM_017029607.2:c.7154T>C	XP_016885096.1:p.Val2385Ala
XM_017029608.2:c.7106T>C	XP_016885097.1:p.Val2369Ala
XM_017029609.1:c.7070T>C	XP_016885098.1:p.Val2357Ala
XM_017029610.1:c.7067T>C	XP_016885099.1:p.Val2356Ala
XM_017029611.1:c.7022T>C	XP_016885100.1:p.Val2341Ala
XR_001755700.2:n.7687T>C
NM_138270.4:c.7274T>C	NP_612114.2:p.Val2425Ala
NM_000489.6:c.7388T>C MANE Select	NP_000480.3:p.Val2463Ala
NM_138270.5:c.7274T>C	NP_612114.2:p.Val2425Ala