Canonical Allele Identifier: CA413788629

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86047483C>T , CM000685.2:g.86047483C>T	GRCh38
NC_000023.10:g.85302487C>T , CM000685.1:g.85302487C>T	GRCh37
NC_000023.9:g.85189143C>T	NCBI36
NG_009874.2:g.5080G>A , LRG_699:g.5080G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.49+1G>A MANE Select	NP_000381.1:n.49+1G>A
ENST00000357749.7:c.49+1G>A MANE Select	ENSP00000350386.2:n.49+1G>A
NM_000390.2:c.49+1G>A , LRG_699t1:c.49+1G>A	NP_000381.1:n.49+1G>A
NM_000390.3:c.49+1G>A	NP_000381.1:n.49+1G>A
NM_001145414.2:c.49+1G>A , LRG_699t2:c.49+1G>A	NP_001138886.1:n.49+1G>A
NM_001145414.3:c.49+1G>A	NP_001138886.1:n.49+1G>A
NM_001145414.4:c.49+1G>A	NP_001138886.1:n.49+1G>A
ENST00000357749.6:c.49+1G>A	ENSP00000350386.2:n.49+1G>A
ENST00000483950.1:n.78+1G>A
ENST00000615443.1:c.49+1G>A	ENSP00000484306.1:n.49+1G>A
XM_017029242.2:c.49+1G>A	XP_016884731.1:n.49+1G>A
XM_017029246.1:c.-392+1G>A	XP_016884735.1:n.-392+1G>A