Canonical Allele Identifier: CA2442462331
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85911292G= , CM000685.2:g.85911292G= GRCh38
NC_000023.10:g.85166297G= , CM000685.1:g.85166297G= GRCh37
NC_000023.9:g.85052953G= NCBI36
NG_009874.2:g.141271C= , LRG_699:g.141271C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.1213C= MANE Select ENSP00000350386.2:p.Gln405=
ENST00000357749.6:c.1213C= ENSP00000350386.2:p.Gln405=
ENST00000467744.2:n.127-48198C=
NM_000390.2:c.1213C= , LRG_699t1:c.1213C= NP_000381.1:p.Gln405=
XM_006724615.2:c.1150C= XP_006724678.1:p.Gln384=
XM_011530839.1:c.769C= XP_011529141.1:p.Gln257=
NM_000390.3:c.1213C= NP_000381.1:p.Gln405=
NM_001320959.1:c.769C= NP_001307888.1:p.Gln257=
NM_001362517.1:c.769C= NP_001349446.1:p.Gln257=
NM_001362518.1:c.769C= NP_001349447.1:p.Gln257=
NM_001362519.1:c.769C= NP_001349448.1:p.Gln257=
XM_017029242.2:c.1213C= XP_016884731.1:p.Gln405=
XM_017029246.1:c.769C= XP_016884735.1:p.Gln257=
XM_024452331.1:c.769C= XP_024308099.1:p.Gln257=
NM_000390.4:c.1213C= MANE Select NP_000381.1:p.Gln405=
NM_001362518.2:c.769C= NP_001349447.1:p.Gln257=