Canonical Allele Identifier: CA2442480606
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85963881A= , CM000685.2:g.85963881A= GRCh38
NC_000023.10:g.85218886A= , CM000685.1:g.85218886A= GRCh37
NC_000023.9:g.85105542A= NCBI36
NG_009874.2:g.88682T= , LRG_699:g.88682T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.486T= MANE Select ENSP00000350386.2:p.Asp162=
ENST00000357749.6:c.486T= ENSP00000350386.2:p.Asp162=
ENST00000467744.2:n.126+63610T=
NM_000390.2:c.486T= , LRG_699t1:c.486T= NP_000381.1:p.Asp162=
XM_006724615.2:c.423T= XP_006724678.1:p.Asp141=
XM_011530839.1:c.42T= XP_011529141.1:p.Asp14=
NM_000390.3:c.486T= NP_000381.1:p.Asp162=
NM_001320959.1:c.42T= NP_001307888.1:p.Asp14=
NM_001362517.1:c.42T= NP_001349446.1:p.Asp14=
NM_001362518.1:c.42T= NP_001349447.1:p.Asp14=
NM_001362519.1:c.42T= NP_001349448.1:p.Asp14=
XM_017029242.2:c.486T= XP_016884731.1:p.Asp162=
XM_017029246.1:c.42T= XP_016884735.1:p.Asp14=
XM_024452331.1:c.42T= XP_024308099.1:p.Asp14=
NM_000390.4:c.486T= MANE Select NP_000381.1:p.Asp162=
NM_001362518.2:c.42T= NP_001349447.1:p.Asp14=