Canonical Allele Identifier: CA413788098

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85978857C>T , CM000685.2:g.85978857C>T	GRCh38
NC_000023.10:g.85233861C>T , CM000685.1:g.85233861C>T	GRCh37
NC_000023.9:g.85120517C>T	NCBI36
NG_009874.2:g.73706G>A , LRG_699:g.73706G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.224G>A MANE Select	NP_000381.1:p.Trp75Ter
ENST00000357749.7:c.224G>A MANE Select	ENSP00000350386.2:p.Trp75Ter
NM_000390.2:c.224G>A , LRG_699t1:c.224G>A	NP_000381.1:p.Trp75Ter
NM_000390.3:c.224G>A	NP_000381.1:p.Trp75Ter
NM_001145414.2:c.224G>A , LRG_699t2:c.224G>A	NP_001138886.1:p.Trp75Ter
NM_001145414.3:c.224G>A	NP_001138886.1:p.Trp75Ter
NM_001145414.4:c.224G>A	NP_001138886.1:p.Trp75Ter
NM_001320959.1:c.-221G>A	NP_001307888.1:n.-221G>A
NM_001362517.1:c.-221G>A	NP_001349446.1:n.-221G>A
NM_001362518.1:c.-217G>A	NP_001349447.1:n.-217G>A
NM_001362518.2:c.-217G>A	NP_001349447.1:n.-217G>A
NM_001362519.1:c.-217G>A	NP_001349448.1:n.-217G>A
ENST00000357749.6:c.224G>A	ENSP00000350386.2:p.Trp75Ter
ENST00000467744.2:n.126+48634G>A
ENST00000487515.1:n.108G>A
ENST00000615443.1:c.224G>A	ENSP00000484306.1:p.Trp75Ter
XM_006724615.2:c.161G>A	XP_006724678.1:p.Trp54Ter
XM_011530839.1:c.-221G>A	XP_011529141.1:n.-221G>A
XM_017029242.2:c.224G>A	XP_016884731.1:p.Trp75Ter
XM_017029246.1:c.-217G>A	XP_016884735.1:n.-217G>A
XM_024452331.1:c.-221G>A	XP_024308099.1:n.-221G>A