Canonical Allele Identifier: CA413788688

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86047511C>A , CM000685.2:g.86047511C>A	GRCh38
NC_000023.10:g.85302515C>A , CM000685.1:g.85302515C>A	GRCh37
NC_000023.9:g.85189171C>A	NCBI36
NG_009874.2:g.5052G>T , LRG_699:g.5052G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.22G>T MANE Select	NP_000381.1:p.Glu8Ter
ENST00000357749.7:c.22G>T MANE Select	ENSP00000350386.2:p.Glu8Ter
NM_000390.2:c.22G>T , LRG_699t1:c.22G>T	NP_000381.1:p.Glu8Ter
NM_000390.3:c.22G>T	NP_000381.1:p.Glu8Ter
NM_001145414.2:c.22G>T , LRG_699t2:c.22G>T	NP_001138886.1:p.Glu8Ter
NM_001145414.3:c.22G>T	NP_001138886.1:p.Glu8Ter
NM_001145414.4:c.22G>T	NP_001138886.1:p.Glu8Ter
ENST00000357749.6:c.22G>T	ENSP00000350386.2:p.Glu8Ter
ENST00000483950.1:n.51G>T
ENST00000615443.1:c.22G>T	ENSP00000484306.1:p.Glu8Ter
XM_017029242.2:c.22G>T	XP_016884731.1:p.Glu8Ter
XM_017029246.1:c.-419G>T	XP_016884735.1:n.-419G>T