Canonical Allele Identifier: CA413704322

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763971A>G (hg19) ; chrX:g.77508493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508493A>G , CM000685.2:g.77508493A>G	GRCh38
NC_000023.10:g.76763971A>G , CM000685.1:g.76763971A>G	GRCh37
NC_000023.9:g.76650627A>G	NCBI36
NG_008838.2:g.282729T>C
NG_008838.3:g.282777T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7337T>C MANE Select	ENSP00000362441.4:p.Met2446Thr
ENST00000675732.1:c.2435T>C	ENSP00000502598.1:p.Met812Thr
ENST00000373344.9:c.7337T>C	ENSP00000362441.4:p.Met2446Thr
ENST00000395603.7:c.7223T>C	ENSP00000378967.3:p.Met2408Thr
ENST00000480283.5:c.*6965T>C	ENSP00000480196.1:n.*6965T>C
ENST00000623706.3:n.5657T>C
ENST00000624766.1:n.568T>C
NM_000489.4:c.7337T>C	NP_000480.3:p.Met2446Thr
NM_138270.3:c.7223T>C	NP_612114.2:p.Met2408Thr
XM_005262153.3:c.7334T>C	XP_005262210.2:p.Met2445Thr
XM_005262154.3:c.7250T>C	XP_005262211.2:p.Met2417Thr
XM_005262155.3:c.7220T>C	XP_005262212.2:p.Met2407Thr
XM_005262156.3:c.7172T>C	XP_005262213.2:p.Met2391Thr
XM_005262157.3:c.7133T>C	XP_005262214.2:p.Met2378Thr
XM_006724666.2:c.7220T>C	XP_006724729.1:p.Met2407Thr
XM_006724667.2:c.7058T>C	XP_006724730.1:p.Met2353Thr
XR_938400.1:n.8929T>C
NM_000489.5:c.7337T>C	NP_000480.3:p.Met2446Thr
XM_005262153.5:c.7334T>C	XP_005262210.2:p.Met2445Thr
XM_005262154.5:c.7250T>C	XP_005262211.2:p.Met2417Thr
XM_005262155.4:c.7220T>C	XP_005262212.2:p.Met2407Thr
XM_005262156.4:c.7172T>C	XP_005262213.2:p.Met2391Thr
XM_005262157.5:c.7133T>C	XP_005262214.2:p.Met2378Thr
XM_006724666.4:c.7220T>C	XP_006724729.1:p.Met2407Thr
XM_006724667.3:c.7058T>C	XP_006724730.1:p.Met2353Thr
XM_017029601.2:c.7247T>C	XP_016885090.1:p.Met2416Thr
XM_017029602.1:c.7217T>C	XP_016885091.1:p.Met2406Thr
XM_017029603.1:c.7169T>C	XP_016885092.1:p.Met2390Thr
XM_017029604.2:c.7136T>C	XP_016885093.1:p.Met2379Thr
XM_017029605.1:c.7133T>C	XP_016885094.1:p.Met2378Thr
XM_017029606.2:c.7106T>C	XP_016885095.1:p.Met2369Thr
XM_017029607.2:c.7103T>C	XP_016885096.1:p.Met2368Thr
XM_017029608.2:c.7055T>C	XP_016885097.1:p.Met2352Thr
XM_017029609.1:c.7019T>C	XP_016885098.1:p.Met2340Thr
XM_017029610.1:c.7016T>C	XP_016885099.1:p.Met2339Thr
XM_017029611.1:c.6971T>C	XP_016885100.1:p.Met2324Thr
XR_001755700.2:n.7636T>C
NM_138270.4:c.7223T>C	NP_612114.2:p.Met2408Thr
NM_000489.6:c.7337T>C MANE Select	NP_000480.3:p.Met2446Thr
NM_138270.5:c.7223T>C	NP_612114.2:p.Met2408Thr