Canonical Allele Identifier: CA413703647

Gene: ATRX

Linked Data

• dbSNP Id: rs1434528415
• gnomAD v3: X-77508397-G-A
• gnomAD v4: X-77508397-G-A
• MyVariant Identifiers: chrX:g.76763875G>A (hg19) ; chrX:g.77508397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508397G>A , CM000685.2:g.77508397G>A	GRCh38
NC_000023.10:g.76763875G>A , CM000685.1:g.76763875G>A	GRCh37
NC_000023.9:g.76650531G>A	NCBI36
NG_008838.2:g.282825C>T
NG_008838.3:g.282873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7433C>T MANE Select	ENSP00000362441.4:p.Pro2478Leu
ENST00000675732.1:c.2531C>T	ENSP00000502598.1:p.Pro844Leu
ENST00000373344.9:c.7433C>T	ENSP00000362441.4:p.Pro2478Leu
ENST00000395603.7:c.7319C>T	ENSP00000378967.3:p.Pro2440Leu
ENST00000480283.5:c.*7061C>T	ENSP00000480196.1:n.*7061C>T
ENST00000623706.3:n.5753C>T
NM_000489.4:c.7433C>T	NP_000480.3:p.Pro2478Leu
NM_138270.3:c.7319C>T	NP_612114.2:p.Pro2440Leu
XM_005262153.3:c.7430C>T	XP_005262210.2:p.Pro2477Leu
XM_005262154.3:c.7346C>T	XP_005262211.2:p.Pro2449Leu
XM_005262155.3:c.7316C>T	XP_005262212.2:p.Pro2439Leu
XM_005262156.3:c.7268C>T	XP_005262213.2:p.Pro2423Leu
XM_005262157.3:c.7229C>T	XP_005262214.2:p.Pro2410Leu
XM_006724666.2:c.7316C>T	XP_006724729.1:p.Pro2439Leu
XM_006724667.2:c.7154C>T	XP_006724730.1:p.Pro2385Leu
XR_938400.1:n.9025C>T
NM_000489.5:c.7433C>T	NP_000480.3:p.Pro2478Leu
XM_005262153.5:c.7430C>T	XP_005262210.2:p.Pro2477Leu
XM_005262154.5:c.7346C>T	XP_005262211.2:p.Pro2449Leu
XM_005262155.4:c.7316C>T	XP_005262212.2:p.Pro2439Leu
XM_005262156.4:c.7268C>T	XP_005262213.2:p.Pro2423Leu
XM_005262157.5:c.7229C>T	XP_005262214.2:p.Pro2410Leu
XM_006724666.4:c.7316C>T	XP_006724729.1:p.Pro2439Leu
XM_006724667.3:c.7154C>T	XP_006724730.1:p.Pro2385Leu
XM_017029601.2:c.7343C>T	XP_016885090.1:p.Pro2448Leu
XM_017029602.1:c.7313C>T	XP_016885091.1:p.Pro2438Leu
XM_017029603.1:c.7265C>T	XP_016885092.1:p.Pro2422Leu
XM_017029604.2:c.7232C>T	XP_016885093.1:p.Pro2411Leu
XM_017029605.1:c.7229C>T	XP_016885094.1:p.Pro2410Leu
XM_017029606.2:c.7202C>T	XP_016885095.1:p.Pro2401Leu
XM_017029607.2:c.7199C>T	XP_016885096.1:p.Pro2400Leu
XM_017029608.2:c.7151C>T	XP_016885097.1:p.Pro2384Leu
XM_017029609.1:c.7115C>T	XP_016885098.1:p.Pro2372Leu
XM_017029610.1:c.7112C>T	XP_016885099.1:p.Pro2371Leu
XM_017029611.1:c.7067C>T	XP_016885100.1:p.Pro2356Leu
XR_001755700.2:n.7732C>T
NM_138270.4:c.7319C>T	NP_612114.2:p.Pro2440Leu
NM_000489.6:c.7433C>T MANE Select	NP_000480.3:p.Pro2478Leu
NM_138270.5:c.7319C>T	NP_612114.2:p.Pro2440Leu