Canonical Allele Identifier: CA2442478862
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85958871C= , CM000685.2:g.85958871C= GRCh38
NC_000023.10:g.85213876C= , CM000685.1:g.85213876C= GRCh37
NC_000023.9:g.85100532C= NCBI36
NG_009874.2:g.93692G= , LRG_699:g.93692G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.809G= MANE Select ENSP00000350386.2:p.Arg270=
ENST00000357749.6:c.809G= ENSP00000350386.2:p.Arg270=
ENST00000467744.2:n.126+68620G=
NM_000390.2:c.809G= , LRG_699t1:c.809G= NP_000381.1:p.Arg270=
XM_006724615.2:c.746G= XP_006724678.1:p.Arg249=
XM_011530839.1:c.365G= XP_011529141.1:p.Arg122=
NM_000390.3:c.809G= NP_000381.1:p.Arg270=
NM_001320959.1:c.365G= NP_001307888.1:p.Arg122=
NM_001362517.1:c.365G= NP_001349446.1:p.Arg122=
NM_001362518.1:c.365G= NP_001349447.1:p.Arg122=
NM_001362519.1:c.365G= NP_001349448.1:p.Arg122=
XM_017029242.2:c.809G= XP_016884731.1:p.Arg270=
XM_017029246.1:c.365G= XP_016884735.1:p.Arg122=
XM_024452331.1:c.365G= XP_024308099.1:p.Arg122=
NM_000390.4:c.809G= MANE Select NP_000381.1:p.Arg270=
NM_001362518.2:c.365G= NP_001349447.1:p.Arg122=