Canonical Allele Identifier: CA2442480653

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85964015G= , CM000685.2:g.85964015G=	GRCh38
NC_000023.10:g.85219020G= , CM000685.1:g.85219020G=	GRCh37
NC_000023.9:g.85105676G=	NCBI36
NG_009874.2:g.88548C= , LRG_699:g.88548C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.352C= MANE Select	ENSP00000350386.2:p.Leu118=
ENST00000357749.6:c.352C=	ENSP00000350386.2:p.Leu118=
ENST00000467744.2:n.126+63476C=
NM_000390.2:c.352C= , LRG_699t1:c.352C=	NP_000381.1:p.Leu118=
XM_006724615.2:c.289C=	XP_006724678.1:p.Leu97=
XM_011530839.1:c.-93C=	XP_011529141.1:n.-93C=
NM_000390.3:c.352C=	NP_000381.1:p.Leu118=
NM_001320959.1:c.-93C=	NP_001307888.1:n.-93C=
NM_001362517.1:c.-93C=	NP_001349446.1:n.-93C=
NM_001362518.1:c.-93C=	NP_001349447.1:n.-93C=
NM_001362519.1:c.-93C=	NP_001349448.1:n.-93C=
XM_017029242.2:c.352C=	XP_016884731.1:p.Leu118=
XM_017029246.1:c.-93C=	XP_016884735.1:n.-93C=
XM_024452331.1:c.-93C=	XP_024308099.1:n.-93C=
NM_000390.4:c.352C= MANE Select	NP_000381.1:p.Leu118=
NM_001362518.2:c.-93C=	NP_001349447.1:n.-93C=