Canonical Allele Identifier: CA413704800

Gene: ATRX

Linked Data

• dbSNP Id: rs2062761742
• MyVariant Identifiers: chrX:g.76764030C>G (hg19) ; chrX:g.77508552C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508552C>G , CM000685.2:g.77508552C>G	GRCh38
NC_000023.10:g.76764030C>G , CM000685.1:g.76764030C>G	GRCh37
NC_000023.9:g.76650686C>G	NCBI36
NG_008838.2:g.282670G>C
NG_008838.3:g.282718G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7278G>C MANE Select	ENSP00000362441.4:p.Met2426Ile
ENST00000675732.1:c.2376G>C	ENSP00000502598.1:p.Met792Ile
ENST00000373344.9:c.7278G>C	ENSP00000362441.4:p.Met2426Ile
ENST00000395603.7:c.7164G>C	ENSP00000378967.3:p.Met2388Ile
ENST00000480283.5:c.*6906G>C	ENSP00000480196.1:n.*6906G>C
ENST00000623706.3:n.5598G>C
ENST00000624766.1:n.509G>C
NM_000489.4:c.7278G>C	NP_000480.3:p.Met2426Ile
NM_138270.3:c.7164G>C	NP_612114.2:p.Met2388Ile
XM_005262153.3:c.7275G>C	XP_005262210.2:p.Met2425Ile
XM_005262154.3:c.7191G>C	XP_005262211.2:p.Met2397Ile
XM_005262155.3:c.7161G>C	XP_005262212.2:p.Met2387Ile
XM_005262156.3:c.7113G>C	XP_005262213.2:p.Met2371Ile
XM_005262157.3:c.7074G>C	XP_005262214.2:p.Met2358Ile
XM_006724666.2:c.7161G>C	XP_006724729.1:p.Met2387Ile
XM_006724667.2:c.6999G>C	XP_006724730.1:p.Met2333Ile
XR_938400.1:n.8870G>C
NM_000489.5:c.7278G>C	NP_000480.3:p.Met2426Ile
XM_005262153.5:c.7275G>C	XP_005262210.2:p.Met2425Ile
XM_005262154.5:c.7191G>C	XP_005262211.2:p.Met2397Ile
XM_005262155.4:c.7161G>C	XP_005262212.2:p.Met2387Ile
XM_005262156.4:c.7113G>C	XP_005262213.2:p.Met2371Ile
XM_005262157.5:c.7074G>C	XP_005262214.2:p.Met2358Ile
XM_006724666.4:c.7161G>C	XP_006724729.1:p.Met2387Ile
XM_006724667.3:c.6999G>C	XP_006724730.1:p.Met2333Ile
XM_017029601.2:c.7188G>C	XP_016885090.1:p.Met2396Ile
XM_017029602.1:c.7158G>C	XP_016885091.1:p.Met2386Ile
XM_017029603.1:c.7110G>C	XP_016885092.1:p.Met2370Ile
XM_017029604.2:c.7077G>C	XP_016885093.1:p.Met2359Ile
XM_017029605.1:c.7074G>C	XP_016885094.1:p.Met2358Ile
XM_017029606.2:c.7047G>C	XP_016885095.1:p.Met2349Ile
XM_017029607.2:c.7044G>C	XP_016885096.1:p.Met2348Ile
XM_017029608.2:c.6996G>C	XP_016885097.1:p.Met2332Ile
XM_017029609.1:c.6960G>C	XP_016885098.1:p.Met2320Ile
XM_017029610.1:c.6957G>C	XP_016885099.1:p.Met2319Ile
XM_017029611.1:c.6912G>C	XP_016885100.1:p.Met2304Ile
XR_001755700.2:n.7577G>C
NM_138270.4:c.7164G>C	NP_612114.2:p.Met2388Ile
NM_000489.6:c.7278G>C MANE Select	NP_000480.3:p.Met2426Ile
NM_138270.5:c.7164G>C	NP_612114.2:p.Met2388Ile