Canonical Allele Identifier: CA413787996

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86027524G>C , CM000685.2:g.86027524G>C	GRCh38
NC_000023.10:g.85282528G>C , CM000685.1:g.85282528G>C	GRCh37
NC_000023.9:g.85169184G>C	NCBI36
NG_009874.2:g.25039C>G , LRG_699:g.25039C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.83C>G MANE Select	NP_000381.1:p.Ser28Ter
ENST00000357749.7:c.83C>G MANE Select	ENSP00000350386.2:p.Ser28Ter
NM_000390.2:c.83C>G , LRG_699t1:c.83C>G	NP_000381.1:p.Ser28Ter
NM_000390.3:c.83C>G	NP_000381.1:p.Ser28Ter
NM_001145414.2:c.83C>G , LRG_699t2:c.83C>G	NP_001138886.1:p.Ser28Ter
NM_001145414.3:c.83C>G	NP_001138886.1:p.Ser28Ter
NM_001145414.4:c.83C>G	NP_001138886.1:p.Ser28Ter
NM_001320959.1:c.-362C>G	NP_001307888.1:n.-362C>G
NM_001362517.1:c.-362C>G	NP_001349446.1:n.-362C>G
NM_001362518.1:c.-358C>G	NP_001349447.1:n.-358C>G
NM_001362518.2:c.-358C>G	NP_001349447.1:n.-358C>G
NM_001362519.1:c.-358C>G	NP_001349448.1:n.-358C>G
ENST00000357749.6:c.83C>G	ENSP00000350386.2:p.Ser28Ter
ENST00000467744.2:n.93C>G
ENST00000483950.1:n.112C>G
ENST00000615443.1:c.83C>G	ENSP00000484306.1:p.Ser28Ter
XM_011530839.1:c.-362C>G	XP_011529141.1:n.-362C>G
XM_017029242.2:c.83C>G	XP_016884731.1:p.Ser28Ter
XM_017029246.1:c.-358C>G	XP_016884735.1:n.-358C>G
XM_024452331.1:c.-362C>G	XP_024308099.1:n.-362C>G