Canonical Allele Identifier: CA642698772
Community Standard Title: NM_000489.6(ATRX):c.485-7C>G
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77688934G>C , CM000685.2:g.77688934G>C GRCh38
NC_000023.10:g.76944427G>C , CM000685.1:g.76944427G>C GRCh37
NC_000023.9:g.76831083G>C NCBI36
NG_008838.2:g.102288C>G
NG_008838.3:g.102336C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000489.6:c.485-7C>G MANE Select NP_000480.3:n.485-7C>G
ENST00000373344.11:c.485-7C>G MANE Select ENSP00000362441.4:n.485-7C>G
NM_000489.4:c.485-7C>G NP_000480.3:n.485-7C>G
NM_000489.5:c.485-7C>G NP_000480.3:n.485-7C>G
NM_138270.3:c.371-7C>G NP_612114.2:n.371-7C>G
NM_138270.4:c.371-7C>G NP_612114.2:n.371-7C>G
NM_138270.5:c.371-7C>G NP_612114.2:n.371-7C>G
ENST00000373344.9:c.485-7C>G ENSP00000362441.4:n.485-7C>G
ENST00000395603.7:c.371-7C>G ENSP00000378967.3:n.371-7C>G
ENST00000480283.5:c.*113-7C>G ENSP00000480196.1:n.*113-7C>G
ENST00000623321.3:c.320-7C>G ENSP00000485127.1:n.320-7C>G
ENST00000624032.3:c.485-7C>G ENSP00000485253.1:n.485-7C>G
ENST00000624166.3:c.371-10C>G ENSP00000485103.1:n.371-10C>G
ENST00000624668.3:c.206-7C>G ENSP00000485100.1:n.206-7C>G
ENST00000625063.3:c.303-10C>G
ENST00000635865.1:c.78-10C>G ENSP00000490150.1:n.78-10C>G
XM_005262153.3:c.485-10C>G XP_005262210.2:n.485-10C>G
XM_005262153.5:c.485-10C>G XP_005262210.2:n.485-10C>G
XM_005262154.3:c.485-7C>G XP_005262211.2:n.485-7C>G
XM_005262154.5:c.485-7C>G XP_005262211.2:n.485-7C>G
XM_005262155.3:c.368-7C>G XP_005262212.2:n.368-7C>G
XM_005262155.4:c.368-7C>G XP_005262212.2:n.368-7C>G
XM_005262156.3:c.320-7C>G XP_005262213.2:n.320-7C>G
XM_005262156.4:c.320-7C>G XP_005262213.2:n.320-7C>G
XM_005262157.3:c.371-10C>G XP_005262214.2:n.371-10C>G
XM_005262157.5:c.371-10C>G XP_005262214.2:n.371-10C>G
XM_006724666.2:c.371-10C>G XP_006724729.1:n.371-10C>G
XM_006724666.4:c.371-10C>G XP_006724729.1:n.371-10C>G
XM_006724667.2:c.206-7C>G XP_006724730.1:n.206-7C>G
XM_006724667.3:c.206-7C>G XP_006724730.1:n.206-7C>G
XM_006724668.2:c.485-7C>G XP_006724731.1:n.485-7C>G
XM_006724668.3:c.485-7C>G XP_006724731.1:n.485-7C>G
XM_017029601.2:c.485-10C>G XP_016885090.1:n.485-10C>G
XM_017029602.1:c.368-10C>G XP_016885091.1:n.368-10C>G
XM_017029603.1:c.320-10C>G XP_016885092.1:n.320-10C>G
XM_017029604.2:c.371-7C>G XP_016885093.1:n.371-7C>G
XM_017029605.1:c.368-7C>G XP_016885094.1:n.368-7C>G
XM_017029606.2:c.254-7C>G XP_016885095.1:n.254-7C>G
XM_017029607.2:c.254-10C>G XP_016885096.1:n.254-10C>G
XM_017029608.2:c.206-10C>G XP_016885097.1:n.206-10C>G
XM_017029609.1:c.254-7C>G XP_016885098.1:n.254-7C>G
XM_017029610.1:c.254-10C>G XP_016885099.1:n.254-10C>G
XM_017029611.1:c.206-7C>G XP_016885100.1:n.206-7C>G
XR_001755700.2:n.710-7C>G
XR_938400.1:n.753-7C>G