Canonical Allele Identifier: CA2442478839

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958811C= , CM000685.2:g.85958811C=	GRCh38
NC_000023.10:g.85213816C= , CM000685.1:g.85213816C=	GRCh37
NC_000023.9:g.85100472C=	NCBI36
NG_009874.2:g.93752G= , LRG_699:g.93752G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.819+50G= MANE Select	ENSP00000350386.2:n.819+50G=
ENST00000357749.6:c.819+50G=	ENSP00000350386.2:n.819+50G=
ENST00000467744.2:n.126+68680G=
NM_000390.2:c.819+50G= , LRG_699t1:c.819+50G=	NP_000381.1:n.819+50G=
XM_006724615.2:c.756+50G=	XP_006724678.1:n.756+50G=
XM_011530839.1:c.375+50G=	XP_011529141.1:n.375+50G=
NM_000390.3:c.819+50G=	NP_000381.1:n.819+50G=
NM_001320959.1:c.375+50G=	NP_001307888.1:n.375+50G=
NM_001362517.1:c.375+50G=	NP_001349446.1:n.375+50G=
NM_001362518.1:c.375+50G=	NP_001349447.1:n.375+50G=
NM_001362519.1:c.375+50G=	NP_001349448.1:n.375+50G=
XM_017029242.2:c.819+50G=	XP_016884731.1:n.819+50G=
XM_017029246.1:c.375+50G=	XP_016884735.1:n.375+50G=
XM_024452331.1:c.375+50G=	XP_024308099.1:n.375+50G=
NM_000390.4:c.819+50G= MANE Select	NP_000381.1:n.819+50G=
NM_001362518.2:c.375+50G=	NP_001349447.1:n.375+50G=