Canonical Allele Identifier: CA413704242

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763960T>G (hg19) ; chrX:g.77508482T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508482T>G , CM000685.2:g.77508482T>G	GRCh38
NC_000023.10:g.76763960T>G , CM000685.1:g.76763960T>G	GRCh37
NC_000023.9:g.76650616T>G	NCBI36
NG_008838.2:g.282740A>C
NG_008838.3:g.282788A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7348A>C MANE Select	ENSP00000362441.4:p.Asn2450His
ENST00000675732.1:c.2446A>C	ENSP00000502598.1:p.Asn816His
ENST00000373344.9:c.7348A>C	ENSP00000362441.4:p.Asn2450His
ENST00000395603.7:c.7234A>C	ENSP00000378967.3:p.Asn2412His
ENST00000480283.5:c.*6976A>C	ENSP00000480196.1:n.*6976A>C
ENST00000623706.3:n.5668A>C
ENST00000624766.1:n.579A>C
NM_000489.4:c.7348A>C	NP_000480.3:p.Asn2450His
NM_138270.3:c.7234A>C	NP_612114.2:p.Asn2412His
XM_005262153.3:c.7345A>C	XP_005262210.2:p.Asn2449His
XM_005262154.3:c.7261A>C	XP_005262211.2:p.Asn2421His
XM_005262155.3:c.7231A>C	XP_005262212.2:p.Asn2411His
XM_005262156.3:c.7183A>C	XP_005262213.2:p.Asn2395His
XM_005262157.3:c.7144A>C	XP_005262214.2:p.Asn2382His
XM_006724666.2:c.7231A>C	XP_006724729.1:p.Asn2411His
XM_006724667.2:c.7069A>C	XP_006724730.1:p.Asn2357His
XR_938400.1:n.8940A>C
NM_000489.5:c.7348A>C	NP_000480.3:p.Asn2450His
XM_005262153.5:c.7345A>C	XP_005262210.2:p.Asn2449His
XM_005262154.5:c.7261A>C	XP_005262211.2:p.Asn2421His
XM_005262155.4:c.7231A>C	XP_005262212.2:p.Asn2411His
XM_005262156.4:c.7183A>C	XP_005262213.2:p.Asn2395His
XM_005262157.5:c.7144A>C	XP_005262214.2:p.Asn2382His
XM_006724666.4:c.7231A>C	XP_006724729.1:p.Asn2411His
XM_006724667.3:c.7069A>C	XP_006724730.1:p.Asn2357His
XM_017029601.2:c.7258A>C	XP_016885090.1:p.Asn2420His
XM_017029602.1:c.7228A>C	XP_016885091.1:p.Asn2410His
XM_017029603.1:c.7180A>C	XP_016885092.1:p.Asn2394His
XM_017029604.2:c.7147A>C	XP_016885093.1:p.Asn2383His
XM_017029605.1:c.7144A>C	XP_016885094.1:p.Asn2382His
XM_017029606.2:c.7117A>C	XP_016885095.1:p.Asn2373His
XM_017029607.2:c.7114A>C	XP_016885096.1:p.Asn2372His
XM_017029608.2:c.7066A>C	XP_016885097.1:p.Asn2356His
XM_017029609.1:c.7030A>C	XP_016885098.1:p.Asn2344His
XM_017029610.1:c.7027A>C	XP_016885099.1:p.Asn2343His
XM_017029611.1:c.6982A>C	XP_016885100.1:p.Asn2328His
XR_001755700.2:n.7647A>C
NM_138270.4:c.7234A>C	NP_612114.2:p.Asn2412His
NM_000489.6:c.7348A>C MANE Select	NP_000480.3:p.Asn2450His
NM_138270.5:c.7234A>C	NP_612114.2:p.Asn2412His