Canonical Allele Identifier: CA413704843

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764034T>G (hg19) ; chrX:g.77508556T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508556T>G , CM000685.2:g.77508556T>G	GRCh38
NC_000023.10:g.76764034T>G , CM000685.1:g.76764034T>G	GRCh37
NC_000023.9:g.76650690T>G	NCBI36
NG_008838.2:g.282666A>C
NG_008838.3:g.282714A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7274A>C MANE Select	ENSP00000362441.4:p.Gln2425Pro
ENST00000675732.1:c.2372A>C	ENSP00000502598.1:p.Gln791Pro
ENST00000373344.9:c.7274A>C	ENSP00000362441.4:p.Gln2425Pro
ENST00000395603.7:c.7160A>C	ENSP00000378967.3:p.Gln2387Pro
ENST00000480283.5:c.*6902A>C	ENSP00000480196.1:n.*6902A>C
ENST00000623706.3:n.5594A>C
ENST00000624766.1:n.505A>C
NM_000489.4:c.7274A>C	NP_000480.3:p.Gln2425Pro
NM_138270.3:c.7160A>C	NP_612114.2:p.Gln2387Pro
XM_005262153.3:c.7271A>C	XP_005262210.2:p.Gln2424Pro
XM_005262154.3:c.7187A>C	XP_005262211.2:p.Gln2396Pro
XM_005262155.3:c.7157A>C	XP_005262212.2:p.Gln2386Pro
XM_005262156.3:c.7109A>C	XP_005262213.2:p.Gln2370Pro
XM_005262157.3:c.7070A>C	XP_005262214.2:p.Gln2357Pro
XM_006724666.2:c.7157A>C	XP_006724729.1:p.Gln2386Pro
XM_006724667.2:c.6995A>C	XP_006724730.1:p.Gln2332Pro
XR_938400.1:n.8866A>C
NM_000489.5:c.7274A>C	NP_000480.3:p.Gln2425Pro
XM_005262153.5:c.7271A>C	XP_005262210.2:p.Gln2424Pro
XM_005262154.5:c.7187A>C	XP_005262211.2:p.Gln2396Pro
XM_005262155.4:c.7157A>C	XP_005262212.2:p.Gln2386Pro
XM_005262156.4:c.7109A>C	XP_005262213.2:p.Gln2370Pro
XM_005262157.5:c.7070A>C	XP_005262214.2:p.Gln2357Pro
XM_006724666.4:c.7157A>C	XP_006724729.1:p.Gln2386Pro
XM_006724667.3:c.6995A>C	XP_006724730.1:p.Gln2332Pro
XM_017029601.2:c.7184A>C	XP_016885090.1:p.Gln2395Pro
XM_017029602.1:c.7154A>C	XP_016885091.1:p.Gln2385Pro
XM_017029603.1:c.7106A>C	XP_016885092.1:p.Gln2369Pro
XM_017029604.2:c.7073A>C	XP_016885093.1:p.Gln2358Pro
XM_017029605.1:c.7070A>C	XP_016885094.1:p.Gln2357Pro
XM_017029606.2:c.7043A>C	XP_016885095.1:p.Gln2348Pro
XM_017029607.2:c.7040A>C	XP_016885096.1:p.Gln2347Pro
XM_017029608.2:c.6992A>C	XP_016885097.1:p.Gln2331Pro
XM_017029609.1:c.6956A>C	XP_016885098.1:p.Gln2319Pro
XM_017029610.1:c.6953A>C	XP_016885099.1:p.Gln2318Pro
XM_017029611.1:c.6908A>C	XP_016885100.1:p.Gln2303Pro
XR_001755700.2:n.7573A>C
NM_138270.4:c.7160A>C	NP_612114.2:p.Gln2387Pro
NM_000489.6:c.7274A>C MANE Select	NP_000480.3:p.Gln2425Pro
NM_138270.5:c.7160A>C	NP_612114.2:p.Gln2387Pro