Canonical Allele Identifier: CA413704171

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648510
• MyVariant Identifiers: chrX:g.76763952C>A (hg19) ; chrX:g.77508474C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508474C>A , CM000685.2:g.77508474C>A	GRCh38
NC_000023.10:g.76763952C>A , CM000685.1:g.76763952C>A	GRCh37
NC_000023.9:g.76650608C>A	NCBI36
NG_008838.2:g.282748G>T
NG_008838.3:g.282796G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7356G>T MANE Select	ENSP00000362441.4:p.Gln2452His
ENST00000675732.1:c.2454G>T	ENSP00000502598.1:p.Gln818His
ENST00000373344.9:c.7356G>T	ENSP00000362441.4:p.Gln2452His
ENST00000395603.7:c.7242G>T	ENSP00000378967.3:p.Gln2414His
ENST00000480283.5:c.*6984G>T	ENSP00000480196.1:n.*6984G>T
ENST00000623706.3:n.5676G>T
NM_000489.4:c.7356G>T	NP_000480.3:p.Gln2452His
NM_138270.3:c.7242G>T	NP_612114.2:p.Gln2414His
XM_005262153.3:c.7353G>T	XP_005262210.2:p.Gln2451His
XM_005262154.3:c.7269G>T	XP_005262211.2:p.Gln2423His
XM_005262155.3:c.7239G>T	XP_005262212.2:p.Gln2413His
XM_005262156.3:c.7191G>T	XP_005262213.2:p.Gln2397His
XM_005262157.3:c.7152G>T	XP_005262214.2:p.Gln2384His
XM_006724666.2:c.7239G>T	XP_006724729.1:p.Gln2413His
XM_006724667.2:c.7077G>T	XP_006724730.1:p.Gln2359His
XR_938400.1:n.8948G>T
NM_000489.5:c.7356G>T	NP_000480.3:p.Gln2452His
XM_005262153.5:c.7353G>T	XP_005262210.2:p.Gln2451His
XM_005262154.5:c.7269G>T	XP_005262211.2:p.Gln2423His
XM_005262155.4:c.7239G>T	XP_005262212.2:p.Gln2413His
XM_005262156.4:c.7191G>T	XP_005262213.2:p.Gln2397His
XM_005262157.5:c.7152G>T	XP_005262214.2:p.Gln2384His
XM_006724666.4:c.7239G>T	XP_006724729.1:p.Gln2413His
XM_006724667.3:c.7077G>T	XP_006724730.1:p.Gln2359His
XM_017029601.2:c.7266G>T	XP_016885090.1:p.Gln2422His
XM_017029602.1:c.7236G>T	XP_016885091.1:p.Gln2412His
XM_017029603.1:c.7188G>T	XP_016885092.1:p.Gln2396His
XM_017029604.2:c.7155G>T	XP_016885093.1:p.Gln2385His
XM_017029605.1:c.7152G>T	XP_016885094.1:p.Gln2384His
XM_017029606.2:c.7125G>T	XP_016885095.1:p.Gln2375His
XM_017029607.2:c.7122G>T	XP_016885096.1:p.Gln2374His
XM_017029608.2:c.7074G>T	XP_016885097.1:p.Gln2358His
XM_017029609.1:c.7038G>T	XP_016885098.1:p.Gln2346His
XM_017029610.1:c.7035G>T	XP_016885099.1:p.Gln2345His
XM_017029611.1:c.6990G>T	XP_016885100.1:p.Gln2330His
XR_001755700.2:n.7655G>T
NM_138270.4:c.7242G>T	NP_612114.2:p.Gln2414His
NM_000489.6:c.7356G>T MANE Select	NP_000480.3:p.Gln2452His
NM_138270.5:c.7242G>T	NP_612114.2:p.Gln2414His