Canonical Allele Identifier: CA2442451018

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878979G= , CM000685.2:g.85878979G=	GRCh38
NC_000023.10:g.85133984G= , CM000685.1:g.85133984G=	GRCh37
NC_000023.9:g.85020640G=	NCBI36
NG_009874.2:g.173584C= , LRG_699:g.173584C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1595C= MANE Select	ENSP00000350386.2:p.Thr532=
ENST00000357749.6:c.1595C=	ENSP00000350386.2:p.Thr532=
ENST00000467744.2:n.127-15885C=
NM_000390.2:c.1595C= , LRG_699t1:c.1595C=	NP_000381.1:p.Thr532=
XM_006724615.2:c.1532C=	XP_006724678.1:p.Thr511=
XM_011530839.1:c.1151C=	XP_011529141.1:p.Thr384=
NM_000390.3:c.1595C=	NP_000381.1:p.Thr532=
NM_001320959.1:c.1151C=	NP_001307888.1:p.Thr384=
NM_001362517.1:c.1151C=	NP_001349446.1:p.Thr384=
NM_001362518.1:c.1151C=	NP_001349447.1:p.Thr384=
NM_001362519.1:c.1151C=	NP_001349448.1:p.Thr384=
XM_017029242.2:c.1595C=	XP_016884731.1:p.Thr532=
XM_017029246.1:c.1151C=	XP_016884735.1:p.Thr384=
XM_024452331.1:c.1151C=	XP_024308099.1:p.Thr384=
NM_000390.4:c.1595C= MANE Select	NP_000381.1:p.Thr532=
NM_001362518.2:c.1151C=	NP_001349447.1:p.Thr384=