Canonical Allele Identifier: CA413707433
Community Standard Title: NM_000489.6(ATRX):c.7084A>G (p.Met2362Val)
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77520904T>C , CM000685.2:g.77520904T>C GRCh38
NC_000023.10:g.76776382T>C , CM000685.1:g.76776382T>C GRCh37
NC_000023.9:g.76663038T>C NCBI36
NG_008838.2:g.270318A>G
NG_008838.3:g.270366A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.7084A>G MANE Select NP_000480.3:p.Met2362Val
ENST00000373344.11:c.7084A>G MANE Select ENSP00000362441.4:p.Met2362Val
NM_000489.4:c.7084A>G NP_000480.3:p.Met2362Val
NM_000489.5:c.7084A>G NP_000480.3:p.Met2362Val
NM_138270.3:c.6970A>G NP_612114.2:p.Met2324Val
NM_138270.4:c.6970A>G NP_612114.2:p.Met2324Val
NM_138270.5:c.6970A>G NP_612114.2:p.Met2324Val
ENST00000373344.9:c.7084A>G ENSP00000362441.4:p.Met2362Val
ENST00000395603.7:c.6970A>G ENSP00000378967.3:p.Met2324Val
ENST00000480283.5:c.*6712A>G ENSP00000480196.1:n.*6712A>G
ENST00000623706.3:n.5404A>G
ENST00000624766.1:n.315A>G
ENST00000675732.1:c.2182A>G ENSP00000502598.1:p.Met728Val
XM_005262153.3:c.7081A>G XP_005262210.2:p.Met2361Val
XM_005262153.5:c.7081A>G XP_005262210.2:p.Met2361Val
XM_005262154.3:c.6997A>G XP_005262211.2:p.Met2333Val
XM_005262154.5:c.6997A>G XP_005262211.2:p.Met2333Val
XM_005262155.3:c.6967A>G XP_005262212.2:p.Met2323Val
XM_005262155.4:c.6967A>G XP_005262212.2:p.Met2323Val
XM_005262156.3:c.6919A>G XP_005262213.2:p.Met2307Val
XM_005262156.4:c.6919A>G XP_005262213.2:p.Met2307Val
XM_005262157.3:c.6880A>G XP_005262214.2:p.Met2294Val
XM_005262157.5:c.6880A>G XP_005262214.2:p.Met2294Val
XM_006724666.2:c.6967A>G XP_006724729.1:p.Met2323Val
XM_006724666.4:c.6967A>G XP_006724729.1:p.Met2323Val
XM_006724667.2:c.6805A>G XP_006724730.1:p.Met2269Val
XM_006724667.3:c.6805A>G XP_006724730.1:p.Met2269Val
XM_017029601.2:c.6994A>G XP_016885090.1:p.Met2332Val
XM_017029602.1:c.6964A>G XP_016885091.1:p.Met2322Val
XM_017029603.1:c.6916A>G XP_016885092.1:p.Met2306Val
XM_017029604.2:c.6883A>G XP_016885093.1:p.Met2295Val
XM_017029605.1:c.6880A>G XP_016885094.1:p.Met2294Val
XM_017029606.2:c.6853A>G XP_016885095.1:p.Met2285Val
XM_017029607.2:c.6850A>G XP_016885096.1:p.Met2284Val
XM_017029608.2:c.6802A>G XP_016885097.1:p.Met2268Val
XM_017029609.1:c.6766A>G XP_016885098.1:p.Met2256Val
XM_017029610.1:c.6763A>G XP_016885099.1:p.Met2255Val
XM_017029611.1:c.6718A>G XP_016885100.1:p.Met2240Val
XR_001755700.2:n.7383A>G
XR_938400.1:n.8676A>G