Canonical Allele Identifier: CA517374083

Gene: ATRX

Linked Data

• dbSNP Id: rs1463840080
• gnomAD v2: X-76763949-C-T
• gnomAD v3: X-77508471-C-T
• gnomAD v4: X-77508471-C-T
• MyVariant Identifiers: chrX:g.76763949C>T (hg19) ; chrX:g.77508471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508471C>T , CM000685.2:g.77508471C>T	GRCh38
NC_000023.10:g.76763949C>T , CM000685.1:g.76763949C>T	GRCh37
NC_000023.9:g.76650605C>T	NCBI36
NG_008838.2:g.282751G>A
NG_008838.3:g.282799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7359G>A MANE Select	ENSP00000362441.4:p.Gln2453=
ENST00000675732.1:c.2457G>A	ENSP00000502598.1:p.Gln819=
ENST00000373344.9:c.7359G>A	ENSP00000362441.4:p.Gln2453=
ENST00000395603.7:c.7245G>A	ENSP00000378967.3:p.Gln2415=
ENST00000480283.5:c.*6987G>A	ENSP00000480196.1:n.*6987G>A
ENST00000623706.3:n.5679G>A
NM_000489.4:c.7359G>A	NP_000480.3:p.Gln2453=
NM_138270.3:c.7245G>A	NP_612114.2:p.Gln2415=
XM_005262153.3:c.7356G>A	XP_005262210.2:p.Gln2452=
XM_005262154.3:c.7272G>A	XP_005262211.2:p.Gln2424=
XM_005262155.3:c.7242G>A	XP_005262212.2:p.Gln2414=
XM_005262156.3:c.7194G>A	XP_005262213.2:p.Gln2398=
XM_005262157.3:c.7155G>A	XP_005262214.2:p.Gln2385=
XM_006724666.2:c.7242G>A	XP_006724729.1:p.Gln2414=
XM_006724667.2:c.7080G>A	XP_006724730.1:p.Gln2360=
XR_938400.1:n.8951G>A
NM_000489.5:c.7359G>A	NP_000480.3:p.Gln2453=
XM_005262153.5:c.7356G>A	XP_005262210.2:p.Gln2452=
XM_005262154.5:c.7272G>A	XP_005262211.2:p.Gln2424=
XM_005262155.4:c.7242G>A	XP_005262212.2:p.Gln2414=
XM_005262156.4:c.7194G>A	XP_005262213.2:p.Gln2398=
XM_005262157.5:c.7155G>A	XP_005262214.2:p.Gln2385=
XM_006724666.4:c.7242G>A	XP_006724729.1:p.Gln2414=
XM_006724667.3:c.7080G>A	XP_006724730.1:p.Gln2360=
XM_017029601.2:c.7269G>A	XP_016885090.1:p.Gln2423=
XM_017029602.1:c.7239G>A	XP_016885091.1:p.Gln2413=
XM_017029603.1:c.7191G>A	XP_016885092.1:p.Gln2397=
XM_017029604.2:c.7158G>A	XP_016885093.1:p.Gln2386=
XM_017029605.1:c.7155G>A	XP_016885094.1:p.Gln2385=
XM_017029606.2:c.7128G>A	XP_016885095.1:p.Gln2376=
XM_017029607.2:c.7125G>A	XP_016885096.1:p.Gln2375=
XM_017029608.2:c.7077G>A	XP_016885097.1:p.Gln2359=
XM_017029609.1:c.7041G>A	XP_016885098.1:p.Gln2347=
XM_017029610.1:c.7038G>A	XP_016885099.1:p.Gln2346=
XM_017029611.1:c.6993G>A	XP_016885100.1:p.Gln2331=
XR_001755700.2:n.7658G>A
NM_138270.4:c.7245G>A	NP_612114.2:p.Gln2415=
NM_000489.6:c.7359G>A MANE Select	NP_000480.3:p.Gln2453=
NM_138270.5:c.7245G>A	NP_612114.2:p.Gln2415=