Canonical Allele Identifier: CA2442509593
Gene: CHM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.86047479C= , CM000685.2:g.86047479C= GRCh38
NC_000023.10:g.85302483C= , CM000685.1:g.85302483C= GRCh37
NC_000023.9:g.85189139C= NCBI36
NG_009874.2:g.5084G= , LRG_699:g.5084G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357749.7:c.49+5G= MANE Select ENSP00000350386.2:n.49+5G=
ENST00000357749.6:c.49+5G= ENSP00000350386.2:n.49+5G=
ENST00000483950.1:n.78+5G=
ENST00000615443.1:c.49+5G= ENSP00000484306.1:n.49+5G=
NM_000390.2:c.49+5G= , LRG_699t1:c.49+5G= NP_000381.1:n.49+5G=
NM_001145414.2:c.49+5G= , LRG_699t2:c.49+5G= NP_001138886.1:n.49+5G=
NM_000390.3:c.49+5G= NP_000381.1:n.49+5G=
NM_001145414.3:c.49+5G= NP_001138886.1:n.49+5G=
XM_017029242.2:c.49+5G= XP_016884731.1:n.49+5G=
XM_017029246.1:c.-392+5G= XP_016884735.1:n.-392+5G=
NM_000390.4:c.49+5G= MANE Select NP_000381.1:n.49+5G=
NM_001145414.4:c.49+5G= NP_001138886.1:n.49+5G=