Canonical Allele Identifier: CA413785438

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956340G>A , CM000685.2:g.85956340G>A	GRCh38
NC_000023.10:g.85211345G>A , CM000685.1:g.85211345G>A	GRCh37
NC_000023.9:g.85098001G>A	NCBI36
NG_009874.2:g.96223C>T , LRG_699:g.96223C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.979C>T MANE Select	NP_000381.1:p.Gln327Ter
ENST00000357749.7:c.979C>T MANE Select	ENSP00000350386.2:p.Gln327Ter
NM_000390.2:c.979C>T , LRG_699t1:c.979C>T	NP_000381.1:p.Gln327Ter
NM_000390.3:c.979C>T	NP_000381.1:p.Gln327Ter
NM_001320959.1:c.535C>T	NP_001307888.1:p.Gln179Ter
NM_001362517.1:c.535C>T	NP_001349446.1:p.Gln179Ter
NM_001362518.1:c.535C>T	NP_001349447.1:p.Gln179Ter
NM_001362518.2:c.535C>T	NP_001349447.1:p.Gln179Ter
NM_001362519.1:c.535C>T	NP_001349448.1:p.Gln179Ter
ENST00000357749.6:c.979C>T	ENSP00000350386.2:p.Gln327Ter
ENST00000467744.2:n.126+71151C>T
XM_006724615.2:c.916C>T	XP_006724678.1:p.Gln306Ter
XM_011530839.1:c.535C>T	XP_011529141.1:p.Gln179Ter
XM_017029242.2:c.979C>T	XP_016884731.1:p.Gln327Ter
XM_017029246.1:c.535C>T	XP_016884735.1:p.Gln179Ter
XM_024452331.1:c.535C>T	XP_024308099.1:p.Gln179Ter