Canonical Allele Identifier: CA643006400

Gene: ATRX

Linked Data

• dbSNP Id: rs1557034605
• gnomAD v2: X-76763825-A-G
• gnomAD v4: X-77508347-A-G
• MyVariant Identifiers: chrX:g.76763825A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508347A>G , CM000685.2:g.77508347A>G	GRCh38
NC_000023.10:g.76763825A>G , CM000685.1:g.76763825A>G	GRCh37
NC_000023.9:g.76650481A>G	NCBI36
NG_008838.2:g.282875T>C
NG_008838.3:g.282923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.*4T>C MANE Select	ENSP00000362441.4:n.*4T>C
ENST00000675732.1:c.*4T>C	ENSP00000502598.1:n.*4T>C
ENST00000373344.9:c.*4T>C	ENSP00000362441.4:n.*4T>C
ENST00000395603.7:c.*4T>C	ENSP00000378967.3:n.*4T>C
ENST00000480283.5:c.*7111T>C	ENSP00000480196.1:n.*7111T>C
ENST00000623706.3:n.5803T>C
NM_000489.4:c.*4T>C	NP_000480.3:n.*4T>C
NM_138270.3:c.*4T>C	NP_612114.2:n.*4T>C
XM_005262153.3:c.*4T>C	XP_005262210.2:n.*4T>C
XM_005262154.3:c.*4T>C	XP_005262211.2:n.*4T>C
XM_005262155.3:c.*4T>C	XP_005262212.2:n.*4T>C
XM_005262156.3:c.*4T>C	XP_005262213.2:n.*4T>C
XM_005262157.3:c.*4T>C	XP_005262214.2:n.*4T>C
XM_006724666.2:c.*4T>C	XP_006724729.1:n.*4T>C
XM_006724667.2:c.*4T>C	XP_006724730.1:n.*4T>C
XR_938400.1:n.9075T>C
NM_000489.5:c.*4T>C	NP_000480.3:n.*4T>C
XM_005262153.5:c.*4T>C	XP_005262210.2:n.*4T>C
XM_005262154.5:c.*4T>C	XP_005262211.2:n.*4T>C
XM_005262155.4:c.*4T>C	XP_005262212.2:n.*4T>C
XM_005262156.4:c.*4T>C	XP_005262213.2:n.*4T>C
XM_005262157.5:c.*4T>C	XP_005262214.2:n.*4T>C
XM_006724666.4:c.*4T>C	XP_006724729.1:n.*4T>C
XM_006724667.3:c.*4T>C	XP_006724730.1:n.*4T>C
XM_017029601.2:c.*4T>C	XP_016885090.1:n.*4T>C
XM_017029602.1:c.*4T>C	XP_016885091.1:n.*4T>C
XM_017029603.1:c.*4T>C	XP_016885092.1:n.*4T>C
XM_017029604.2:c.*4T>C	XP_016885093.1:n.*4T>C
XM_017029605.1:c.*4T>C	XP_016885094.1:n.*4T>C
XM_017029606.2:c.*4T>C	XP_016885095.1:n.*4T>C
XM_017029607.2:c.*4T>C	XP_016885096.1:n.*4T>C
XM_017029608.2:c.*4T>C	XP_016885097.1:n.*4T>C
XM_017029609.1:c.*4T>C	XP_016885098.1:n.*4T>C
XM_017029610.1:c.*4T>C	XP_016885099.1:n.*4T>C
XM_017029611.1:c.*4T>C	XP_016885100.1:n.*4T>C
XR_001755700.2:n.7782T>C
NM_138270.4:c.*4T>C	NP_612114.2:n.*4T>C
NM_000489.6:c.*4T>C MANE Select	NP_000480.3:n.*4T>C
NM_138270.5:c.*4T>C	NP_612114.2:n.*4T>C