Canonical Allele Identifier: CA413704806

Gene: ATRX

Linked Data

• dbSNP Id: rs2062761913
• gnomAD v3: X-77508553-A-G
• gnomAD v4: X-77508553-A-G
• MyVariant Identifiers: chrX:g.76764031A>G (hg19) ; chrX:g.77508553A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508553A>G , CM000685.2:g.77508553A>G	GRCh38
NC_000023.10:g.76764031A>G , CM000685.1:g.76764031A>G	GRCh37
NC_000023.9:g.76650687A>G	NCBI36
NG_008838.2:g.282669T>C
NG_008838.3:g.282717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7277T>C MANE Select	ENSP00000362441.4:p.Met2426Thr
ENST00000675732.1:c.2375T>C	ENSP00000502598.1:p.Met792Thr
ENST00000373344.9:c.7277T>C	ENSP00000362441.4:p.Met2426Thr
ENST00000395603.7:c.7163T>C	ENSP00000378967.3:p.Met2388Thr
ENST00000480283.5:c.*6905T>C	ENSP00000480196.1:n.*6905T>C
ENST00000623706.3:n.5597T>C
ENST00000624766.1:n.508T>C
NM_000489.4:c.7277T>C	NP_000480.3:p.Met2426Thr
NM_138270.3:c.7163T>C	NP_612114.2:p.Met2388Thr
XM_005262153.3:c.7274T>C	XP_005262210.2:p.Met2425Thr
XM_005262154.3:c.7190T>C	XP_005262211.2:p.Met2397Thr
XM_005262155.3:c.7160T>C	XP_005262212.2:p.Met2387Thr
XM_005262156.3:c.7112T>C	XP_005262213.2:p.Met2371Thr
XM_005262157.3:c.7073T>C	XP_005262214.2:p.Met2358Thr
XM_006724666.2:c.7160T>C	XP_006724729.1:p.Met2387Thr
XM_006724667.2:c.6998T>C	XP_006724730.1:p.Met2333Thr
XR_938400.1:n.8869T>C
NM_000489.5:c.7277T>C	NP_000480.3:p.Met2426Thr
XM_005262153.5:c.7274T>C	XP_005262210.2:p.Met2425Thr
XM_005262154.5:c.7190T>C	XP_005262211.2:p.Met2397Thr
XM_005262155.4:c.7160T>C	XP_005262212.2:p.Met2387Thr
XM_005262156.4:c.7112T>C	XP_005262213.2:p.Met2371Thr
XM_005262157.5:c.7073T>C	XP_005262214.2:p.Met2358Thr
XM_006724666.4:c.7160T>C	XP_006724729.1:p.Met2387Thr
XM_006724667.3:c.6998T>C	XP_006724730.1:p.Met2333Thr
XM_017029601.2:c.7187T>C	XP_016885090.1:p.Met2396Thr
XM_017029602.1:c.7157T>C	XP_016885091.1:p.Met2386Thr
XM_017029603.1:c.7109T>C	XP_016885092.1:p.Met2370Thr
XM_017029604.2:c.7076T>C	XP_016885093.1:p.Met2359Thr
XM_017029605.1:c.7073T>C	XP_016885094.1:p.Met2358Thr
XM_017029606.2:c.7046T>C	XP_016885095.1:p.Met2349Thr
XM_017029607.2:c.7043T>C	XP_016885096.1:p.Met2348Thr
XM_017029608.2:c.6995T>C	XP_016885097.1:p.Met2332Thr
XM_017029609.1:c.6959T>C	XP_016885098.1:p.Met2320Thr
XM_017029610.1:c.6956T>C	XP_016885099.1:p.Met2319Thr
XM_017029611.1:c.6911T>C	XP_016885100.1:p.Met2304Thr
XR_001755700.2:n.7576T>C
NM_138270.4:c.7163T>C	NP_612114.2:p.Met2388Thr
NM_000489.6:c.7277T>C MANE Select	NP_000480.3:p.Met2426Thr
NM_138270.5:c.7163T>C	NP_612114.2:p.Met2388Thr