Canonical Allele Identifier: CA2442486882

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85981793C= , CM000685.2:g.85981793C=	GRCh38
NC_000023.10:g.85236797C= , CM000685.1:g.85236797C=	GRCh37
NC_000023.9:g.85123453C=	NCBI36
NG_009874.2:g.70770G= , LRG_699:g.70770G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.133G= MANE Select	NP_000381.1:p.Gly45=
ENST00000357749.7:c.133G= MANE Select	ENSP00000350386.2:p.Gly45=
NM_000390.2:c.133G= , LRG_699t1:c.133G=	NP_000381.1:p.Gly45=
NM_000390.3:c.133G=	NP_000381.1:p.Gly45=
NM_001145414.2:c.133G= , LRG_699t2:c.133G=	NP_001138886.1:p.Gly45=
NM_001145414.3:c.133G=	NP_001138886.1:p.Gly45=
NM_001145414.4:c.133G=	NP_001138886.1:p.Gly45=
NM_001320959.1:c.-312G=	NP_001307888.1:n.-312G=
NM_001362517.1:c.-312G=	NP_001349446.1:n.-312G=
NM_001362518.1:c.-308G=	NP_001349447.1:n.-308G=
NM_001362518.2:c.-308G=	NP_001349447.1:n.-308G=
NM_001362519.1:c.-308G=	NP_001349448.1:n.-308G=
ENST00000357749.6:c.133G=	ENSP00000350386.2:p.Gly45=
ENST00000467744.2:n.126+45698G=
ENST00000487515.1:n.17G=
ENST00000615443.1:c.133G=	ENSP00000484306.1:p.Gly45=
XM_006724615.2:c.70G=	XP_006724678.1:p.Gly24=
XM_011530839.1:c.-312G=	XP_011529141.1:n.-312G=
XM_017029242.2:c.133G=	XP_016884731.1:p.Gly45=
XM_017029246.1:c.-308G=	XP_016884735.1:n.-308G=
XM_024452331.1:c.-312G=	XP_024308099.1:n.-312G=