Canonical Allele Identifier: CA2442480645

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85963997G= , CM000685.2:g.85963997G=	GRCh38
NC_000023.10:g.85219002G= , CM000685.1:g.85219002G=	GRCh37
NC_000023.9:g.85105658G=	NCBI36
NG_009874.2:g.88566C= , LRG_699:g.88566C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.370C= MANE Select	ENSP00000350386.2:p.Leu124=
ENST00000357749.6:c.370C=	ENSP00000350386.2:p.Leu124=
ENST00000467744.2:n.126+63494C=
NM_000390.2:c.370C= , LRG_699t1:c.370C=	NP_000381.1:p.Leu124=
XM_006724615.2:c.307C=	XP_006724678.1:p.Leu103=
XM_011530839.1:c.-75C=	XP_011529141.1:n.-75C=
NM_000390.3:c.370C=	NP_000381.1:p.Leu124=
NM_001320959.1:c.-75C=	NP_001307888.1:n.-75C=
NM_001362517.1:c.-75C=	NP_001349446.1:n.-75C=
NM_001362518.1:c.-75C=	NP_001349447.1:n.-75C=
NM_001362519.1:c.-75C=	NP_001349448.1:n.-75C=
XM_017029242.2:c.370C=	XP_016884731.1:p.Leu124=
XM_017029246.1:c.-75C=	XP_016884735.1:n.-75C=
XM_024452331.1:c.-75C=	XP_024308099.1:n.-75C=
NM_000390.4:c.370C= MANE Select	NP_000381.1:p.Leu124=
NM_001362518.2:c.-75C=	NP_001349447.1:n.-75C=