Canonical Allele Identifier: CA2442478868

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958890G= , CM000685.2:g.85958890G=	GRCh38
NC_000023.10:g.85213895G= , CM000685.1:g.85213895G=	GRCh37
NC_000023.9:g.85100551G=	NCBI36
NG_009874.2:g.93673C= , LRG_699:g.93673C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.790C= MANE Select	ENSP00000350386.2:p.Leu264=
ENST00000357749.6:c.790C=	ENSP00000350386.2:p.Leu264=
ENST00000467744.2:n.126+68601C=
NM_000390.2:c.790C= , LRG_699t1:c.790C=	NP_000381.1:p.Leu264=
XM_006724615.2:c.727C=	XP_006724678.1:p.Leu243=
XM_011530839.1:c.346C=	XP_011529141.1:p.Leu116=
NM_000390.3:c.790C=	NP_000381.1:p.Leu264=
NM_001320959.1:c.346C=	NP_001307888.1:p.Leu116=
NM_001362517.1:c.346C=	NP_001349446.1:p.Leu116=
NM_001362518.1:c.346C=	NP_001349447.1:p.Leu116=
NM_001362519.1:c.346C=	NP_001349448.1:p.Leu116=
XM_017029242.2:c.790C=	XP_016884731.1:p.Leu264=
XM_017029246.1:c.346C=	XP_016884735.1:p.Leu116=
XM_024452331.1:c.346C=	XP_024308099.1:p.Leu116=
NM_000390.4:c.790C= MANE Select	NP_000381.1:p.Leu264=
NM_001362518.2:c.346C=	NP_001349447.1:p.Leu116=