Canonical Allele Identifier: CA413704113

Gene: ATRX

Linked Data

• gnomAD v4: X-77508464-T-C
• MyVariant Identifiers: chrX:g.76763942T>C (hg19) ; chrX:g.77508464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508464T>C , CM000685.2:g.77508464T>C	GRCh38
NC_000023.10:g.76763942T>C , CM000685.1:g.76763942T>C	GRCh37
NC_000023.9:g.76650598T>C	NCBI36
NG_008838.2:g.282758A>G
NG_008838.3:g.282806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7366A>G MANE Select	ENSP00000362441.4:p.Met2456Val
ENST00000675732.1:c.2464A>G	ENSP00000502598.1:p.Met822Val
ENST00000373344.9:c.7366A>G	ENSP00000362441.4:p.Met2456Val
ENST00000395603.7:c.7252A>G	ENSP00000378967.3:p.Met2418Val
ENST00000480283.5:c.*6994A>G	ENSP00000480196.1:n.*6994A>G
ENST00000623706.3:n.5686A>G
NM_000489.4:c.7366A>G	NP_000480.3:p.Met2456Val
NM_138270.3:c.7252A>G	NP_612114.2:p.Met2418Val
XM_005262153.3:c.7363A>G	XP_005262210.2:p.Met2455Val
XM_005262154.3:c.7279A>G	XP_005262211.2:p.Met2427Val
XM_005262155.3:c.7249A>G	XP_005262212.2:p.Met2417Val
XM_005262156.3:c.7201A>G	XP_005262213.2:p.Met2401Val
XM_005262157.3:c.7162A>G	XP_005262214.2:p.Met2388Val
XM_006724666.2:c.7249A>G	XP_006724729.1:p.Met2417Val
XM_006724667.2:c.7087A>G	XP_006724730.1:p.Met2363Val
XR_938400.1:n.8958A>G
NM_000489.5:c.7366A>G	NP_000480.3:p.Met2456Val
XM_005262153.5:c.7363A>G	XP_005262210.2:p.Met2455Val
XM_005262154.5:c.7279A>G	XP_005262211.2:p.Met2427Val
XM_005262155.4:c.7249A>G	XP_005262212.2:p.Met2417Val
XM_005262156.4:c.7201A>G	XP_005262213.2:p.Met2401Val
XM_005262157.5:c.7162A>G	XP_005262214.2:p.Met2388Val
XM_006724666.4:c.7249A>G	XP_006724729.1:p.Met2417Val
XM_006724667.3:c.7087A>G	XP_006724730.1:p.Met2363Val
XM_017029601.2:c.7276A>G	XP_016885090.1:p.Met2426Val
XM_017029602.1:c.7246A>G	XP_016885091.1:p.Met2416Val
XM_017029603.1:c.7198A>G	XP_016885092.1:p.Met2400Val
XM_017029604.2:c.7165A>G	XP_016885093.1:p.Met2389Val
XM_017029605.1:c.7162A>G	XP_016885094.1:p.Met2388Val
XM_017029606.2:c.7135A>G	XP_016885095.1:p.Met2379Val
XM_017029607.2:c.7132A>G	XP_016885096.1:p.Met2378Val
XM_017029608.2:c.7084A>G	XP_016885097.1:p.Met2362Val
XM_017029609.1:c.7048A>G	XP_016885098.1:p.Met2350Val
XM_017029610.1:c.7045A>G	XP_016885099.1:p.Met2349Val
XM_017029611.1:c.7000A>G	XP_016885100.1:p.Met2334Val
XR_001755700.2:n.7665A>G
NM_138270.4:c.7252A>G	NP_612114.2:p.Met2418Val
NM_000489.6:c.7366A>G MANE Select	NP_000480.3:p.Met2456Val
NM_138270.5:c.7252A>G	NP_612114.2:p.Met2418Val