Canonical Allele Identifier: CA2442478886

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85958947G= , CM000685.2:g.85958947G=	GRCh38
NC_000023.10:g.85213952G= , CM000685.1:g.85213952G=	GRCh37
NC_000023.9:g.85100608G=	NCBI36
NG_009874.2:g.93616C= , LRG_699:g.93616C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.733C= MANE Select	ENSP00000350386.2:p.Leu245=
ENST00000357749.6:c.733C=	ENSP00000350386.2:p.Leu245=
ENST00000467744.2:n.126+68544C=
NM_000390.2:c.733C= , LRG_699t1:c.733C=	NP_000381.1:p.Leu245=
XM_006724615.2:c.670C=	XP_006724678.1:p.Leu224=
XM_011530839.1:c.289C=	XP_011529141.1:p.Leu97=
NM_000390.3:c.733C=	NP_000381.1:p.Leu245=
NM_001320959.1:c.289C=	NP_001307888.1:p.Leu97=
NM_001362517.1:c.289C=	NP_001349446.1:p.Leu97=
NM_001362518.1:c.289C=	NP_001349447.1:p.Leu97=
NM_001362519.1:c.289C=	NP_001349448.1:p.Leu97=
XM_017029242.2:c.733C=	XP_016884731.1:p.Leu245=
XM_017029246.1:c.289C=	XP_016884735.1:p.Leu97=
XM_024452331.1:c.289C=	XP_024308099.1:p.Leu97=
NM_000390.4:c.733C= MANE Select	NP_000381.1:p.Leu245=
NM_001362518.2:c.289C=	NP_001349447.1:p.Leu97=