Canonical Allele Identifier: CA413704164

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648472
• MyVariant Identifiers: chrX:g.76763951G>A (hg19) ; chrX:g.77508473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508473G>A , CM000685.2:g.77508473G>A	GRCh38
NC_000023.10:g.76763951G>A , CM000685.1:g.76763951G>A	GRCh37
NC_000023.9:g.76650607G>A	NCBI36
NG_008838.2:g.282749C>T
NG_008838.3:g.282797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7357C>T MANE Select	ENSP00000362441.4:p.Gln2453Ter
ENST00000675732.1:c.2455C>T	ENSP00000502598.1:p.Gln819Ter
ENST00000373344.9:c.7357C>T	ENSP00000362441.4:p.Gln2453Ter
ENST00000395603.7:c.7243C>T	ENSP00000378967.3:p.Gln2415Ter
ENST00000480283.5:c.*6985C>T	ENSP00000480196.1:n.*6985C>T
ENST00000623706.3:n.5677C>T
NM_000489.4:c.7357C>T	NP_000480.3:p.Gln2453Ter
NM_138270.3:c.7243C>T	NP_612114.2:p.Gln2415Ter
XM_005262153.3:c.7354C>T	XP_005262210.2:p.Gln2452Ter
XM_005262154.3:c.7270C>T	XP_005262211.2:p.Gln2424Ter
XM_005262155.3:c.7240C>T	XP_005262212.2:p.Gln2414Ter
XM_005262156.3:c.7192C>T	XP_005262213.2:p.Gln2398Ter
XM_005262157.3:c.7153C>T	XP_005262214.2:p.Gln2385Ter
XM_006724666.2:c.7240C>T	XP_006724729.1:p.Gln2414Ter
XM_006724667.2:c.7078C>T	XP_006724730.1:p.Gln2360Ter
XR_938400.1:n.8949C>T
NM_000489.5:c.7357C>T	NP_000480.3:p.Gln2453Ter
XM_005262153.5:c.7354C>T	XP_005262210.2:p.Gln2452Ter
XM_005262154.5:c.7270C>T	XP_005262211.2:p.Gln2424Ter
XM_005262155.4:c.7240C>T	XP_005262212.2:p.Gln2414Ter
XM_005262156.4:c.7192C>T	XP_005262213.2:p.Gln2398Ter
XM_005262157.5:c.7153C>T	XP_005262214.2:p.Gln2385Ter
XM_006724666.4:c.7240C>T	XP_006724729.1:p.Gln2414Ter
XM_006724667.3:c.7078C>T	XP_006724730.1:p.Gln2360Ter
XM_017029601.2:c.7267C>T	XP_016885090.1:p.Gln2423Ter
XM_017029602.1:c.7237C>T	XP_016885091.1:p.Gln2413Ter
XM_017029603.1:c.7189C>T	XP_016885092.1:p.Gln2397Ter
XM_017029604.2:c.7156C>T	XP_016885093.1:p.Gln2386Ter
XM_017029605.1:c.7153C>T	XP_016885094.1:p.Gln2385Ter
XM_017029606.2:c.7126C>T	XP_016885095.1:p.Gln2376Ter
XM_017029607.2:c.7123C>T	XP_016885096.1:p.Gln2375Ter
XM_017029608.2:c.7075C>T	XP_016885097.1:p.Gln2359Ter
XM_017029609.1:c.7039C>T	XP_016885098.1:p.Gln2347Ter
XM_017029610.1:c.7036C>T	XP_016885099.1:p.Gln2346Ter
XM_017029611.1:c.6991C>T	XP_016885100.1:p.Gln2331Ter
XR_001755700.2:n.7656C>T
NM_138270.4:c.7243C>T	NP_612114.2:p.Gln2415Ter
NM_000489.6:c.7357C>T MANE Select	NP_000480.3:p.Gln2453Ter
NM_138270.5:c.7243C>T	NP_612114.2:p.Gln2415Ter