Canonical Allele Identifier: CA413704309

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649139
• MyVariant Identifiers: chrX:g.76763970C>G (hg19) ; chrX:g.77508492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508492C>G , CM000685.2:g.77508492C>G	GRCh38
NC_000023.10:g.76763970C>G , CM000685.1:g.76763970C>G	GRCh37
NC_000023.9:g.76650626C>G	NCBI36
NG_008838.2:g.282730G>C
NG_008838.3:g.282778G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7338G>C MANE Select	ENSP00000362441.4:p.Met2446Ile
ENST00000675732.1:c.2436G>C	ENSP00000502598.1:p.Met812Ile
ENST00000373344.9:c.7338G>C	ENSP00000362441.4:p.Met2446Ile
ENST00000395603.7:c.7224G>C	ENSP00000378967.3:p.Met2408Ile
ENST00000480283.5:c.*6966G>C	ENSP00000480196.1:n.*6966G>C
ENST00000623706.3:n.5658G>C
ENST00000624766.1:n.569G>C
NM_000489.4:c.7338G>C	NP_000480.3:p.Met2446Ile
NM_138270.3:c.7224G>C	NP_612114.2:p.Met2408Ile
XM_005262153.3:c.7335G>C	XP_005262210.2:p.Met2445Ile
XM_005262154.3:c.7251G>C	XP_005262211.2:p.Met2417Ile
XM_005262155.3:c.7221G>C	XP_005262212.2:p.Met2407Ile
XM_005262156.3:c.7173G>C	XP_005262213.2:p.Met2391Ile
XM_005262157.3:c.7134G>C	XP_005262214.2:p.Met2378Ile
XM_006724666.2:c.7221G>C	XP_006724729.1:p.Met2407Ile
XM_006724667.2:c.7059G>C	XP_006724730.1:p.Met2353Ile
XR_938400.1:n.8930G>C
NM_000489.5:c.7338G>C	NP_000480.3:p.Met2446Ile
XM_005262153.5:c.7335G>C	XP_005262210.2:p.Met2445Ile
XM_005262154.5:c.7251G>C	XP_005262211.2:p.Met2417Ile
XM_005262155.4:c.7221G>C	XP_005262212.2:p.Met2407Ile
XM_005262156.4:c.7173G>C	XP_005262213.2:p.Met2391Ile
XM_005262157.5:c.7134G>C	XP_005262214.2:p.Met2378Ile
XM_006724666.4:c.7221G>C	XP_006724729.1:p.Met2407Ile
XM_006724667.3:c.7059G>C	XP_006724730.1:p.Met2353Ile
XM_017029601.2:c.7248G>C	XP_016885090.1:p.Met2416Ile
XM_017029602.1:c.7218G>C	XP_016885091.1:p.Met2406Ile
XM_017029603.1:c.7170G>C	XP_016885092.1:p.Met2390Ile
XM_017029604.2:c.7137G>C	XP_016885093.1:p.Met2379Ile
XM_017029605.1:c.7134G>C	XP_016885094.1:p.Met2378Ile
XM_017029606.2:c.7107G>C	XP_016885095.1:p.Met2369Ile
XM_017029607.2:c.7104G>C	XP_016885096.1:p.Met2368Ile
XM_017029608.2:c.7056G>C	XP_016885097.1:p.Met2352Ile
XM_017029609.1:c.7020G>C	XP_016885098.1:p.Met2340Ile
XM_017029610.1:c.7017G>C	XP_016885099.1:p.Met2339Ile
XM_017029611.1:c.6972G>C	XP_016885100.1:p.Met2324Ile
XR_001755700.2:n.7637G>C
NM_138270.4:c.7224G>C	NP_612114.2:p.Met2408Ile
NM_000489.6:c.7338G>C MANE Select	NP_000480.3:p.Met2446Ile
NM_138270.5:c.7224G>C	NP_612114.2:p.Met2408Ile