Canonical Allele Identifier: CA413704149

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763948T>G (hg19) ; chrX:g.77508470T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508470T>G , CM000685.2:g.77508470T>G	GRCh38
NC_000023.10:g.76763948T>G , CM000685.1:g.76763948T>G	GRCh37
NC_000023.9:g.76650604T>G	NCBI36
NG_008838.2:g.282752A>C
NG_008838.3:g.282800A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7360A>C MANE Select	ENSP00000362441.4:p.Ile2454Leu
ENST00000675732.1:c.2458A>C	ENSP00000502598.1:p.Ile820Leu
ENST00000373344.9:c.7360A>C	ENSP00000362441.4:p.Ile2454Leu
ENST00000395603.7:c.7246A>C	ENSP00000378967.3:p.Ile2416Leu
ENST00000480283.5:c.*6988A>C	ENSP00000480196.1:n.*6988A>C
ENST00000623706.3:n.5680A>C
NM_000489.4:c.7360A>C	NP_000480.3:p.Ile2454Leu
NM_138270.3:c.7246A>C	NP_612114.2:p.Ile2416Leu
XM_005262153.3:c.7357A>C	XP_005262210.2:p.Ile2453Leu
XM_005262154.3:c.7273A>C	XP_005262211.2:p.Ile2425Leu
XM_005262155.3:c.7243A>C	XP_005262212.2:p.Ile2415Leu
XM_005262156.3:c.7195A>C	XP_005262213.2:p.Ile2399Leu
XM_005262157.3:c.7156A>C	XP_005262214.2:p.Ile2386Leu
XM_006724666.2:c.7243A>C	XP_006724729.1:p.Ile2415Leu
XM_006724667.2:c.7081A>C	XP_006724730.1:p.Ile2361Leu
XR_938400.1:n.8952A>C
NM_000489.5:c.7360A>C	NP_000480.3:p.Ile2454Leu
XM_005262153.5:c.7357A>C	XP_005262210.2:p.Ile2453Leu
XM_005262154.5:c.7273A>C	XP_005262211.2:p.Ile2425Leu
XM_005262155.4:c.7243A>C	XP_005262212.2:p.Ile2415Leu
XM_005262156.4:c.7195A>C	XP_005262213.2:p.Ile2399Leu
XM_005262157.5:c.7156A>C	XP_005262214.2:p.Ile2386Leu
XM_006724666.4:c.7243A>C	XP_006724729.1:p.Ile2415Leu
XM_006724667.3:c.7081A>C	XP_006724730.1:p.Ile2361Leu
XM_017029601.2:c.7270A>C	XP_016885090.1:p.Ile2424Leu
XM_017029602.1:c.7240A>C	XP_016885091.1:p.Ile2414Leu
XM_017029603.1:c.7192A>C	XP_016885092.1:p.Ile2398Leu
XM_017029604.2:c.7159A>C	XP_016885093.1:p.Ile2387Leu
XM_017029605.1:c.7156A>C	XP_016885094.1:p.Ile2386Leu
XM_017029606.2:c.7129A>C	XP_016885095.1:p.Ile2377Leu
XM_017029607.2:c.7126A>C	XP_016885096.1:p.Ile2376Leu
XM_017029608.2:c.7078A>C	XP_016885097.1:p.Ile2360Leu
XM_017029609.1:c.7042A>C	XP_016885098.1:p.Ile2348Leu
XM_017029610.1:c.7039A>C	XP_016885099.1:p.Ile2347Leu
XM_017029611.1:c.6994A>C	XP_016885100.1:p.Ile2332Leu
XR_001755700.2:n.7659A>C
NM_138270.4:c.7246A>C	NP_612114.2:p.Ile2416Leu
NM_000489.6:c.7360A>C MANE Select	NP_000480.3:p.Ile2454Leu
NM_138270.5:c.7246A>C	NP_612114.2:p.Ile2416Leu