Canonical Allele Identifier: CA413704217

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763957A>G (hg19) ; chrX:g.77508479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508479A>G , CM000685.2:g.77508479A>G	GRCh38
NC_000023.10:g.76763957A>G , CM000685.1:g.76763957A>G	GRCh37
NC_000023.9:g.76650613A>G	NCBI36
NG_008838.2:g.282743T>C
NG_008838.3:g.282791T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7351T>C MANE Select	ENSP00000362441.4:p.Tyr2451His
ENST00000675732.1:c.2449T>C	ENSP00000502598.1:p.Tyr817His
ENST00000373344.9:c.7351T>C	ENSP00000362441.4:p.Tyr2451His
ENST00000395603.7:c.7237T>C	ENSP00000378967.3:p.Tyr2413His
ENST00000480283.5:c.*6979T>C	ENSP00000480196.1:n.*6979T>C
ENST00000623706.3:n.5671T>C
NM_000489.4:c.7351T>C	NP_000480.3:p.Tyr2451His
NM_138270.3:c.7237T>C	NP_612114.2:p.Tyr2413His
XM_005262153.3:c.7348T>C	XP_005262210.2:p.Tyr2450His
XM_005262154.3:c.7264T>C	XP_005262211.2:p.Tyr2422His
XM_005262155.3:c.7234T>C	XP_005262212.2:p.Tyr2412His
XM_005262156.3:c.7186T>C	XP_005262213.2:p.Tyr2396His
XM_005262157.3:c.7147T>C	XP_005262214.2:p.Tyr2383His
XM_006724666.2:c.7234T>C	XP_006724729.1:p.Tyr2412His
XM_006724667.2:c.7072T>C	XP_006724730.1:p.Tyr2358His
XR_938400.1:n.8943T>C
NM_000489.5:c.7351T>C	NP_000480.3:p.Tyr2451His
XM_005262153.5:c.7348T>C	XP_005262210.2:p.Tyr2450His
XM_005262154.5:c.7264T>C	XP_005262211.2:p.Tyr2422His
XM_005262155.4:c.7234T>C	XP_005262212.2:p.Tyr2412His
XM_005262156.4:c.7186T>C	XP_005262213.2:p.Tyr2396His
XM_005262157.5:c.7147T>C	XP_005262214.2:p.Tyr2383His
XM_006724666.4:c.7234T>C	XP_006724729.1:p.Tyr2412His
XM_006724667.3:c.7072T>C	XP_006724730.1:p.Tyr2358His
XM_017029601.2:c.7261T>C	XP_016885090.1:p.Tyr2421His
XM_017029602.1:c.7231T>C	XP_016885091.1:p.Tyr2411His
XM_017029603.1:c.7183T>C	XP_016885092.1:p.Tyr2395His
XM_017029604.2:c.7150T>C	XP_016885093.1:p.Tyr2384His
XM_017029605.1:c.7147T>C	XP_016885094.1:p.Tyr2383His
XM_017029606.2:c.7120T>C	XP_016885095.1:p.Tyr2374His
XM_017029607.2:c.7117T>C	XP_016885096.1:p.Tyr2373His
XM_017029608.2:c.7069T>C	XP_016885097.1:p.Tyr2357His
XM_017029609.1:c.7033T>C	XP_016885098.1:p.Tyr2345His
XM_017029610.1:c.7030T>C	XP_016885099.1:p.Tyr2344His
XM_017029611.1:c.6985T>C	XP_016885100.1:p.Tyr2329His
XR_001755700.2:n.7650T>C
NM_138270.4:c.7237T>C	NP_612114.2:p.Tyr2413His
NM_000489.6:c.7351T>C MANE Select	NP_000480.3:p.Tyr2451His
NM_138270.5:c.7237T>C	NP_612114.2:p.Tyr2413His