Canonical Allele Identifier: CA274479

Gene: CHM

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.86027490C>T , CM000685.2:g.86027490C>T	GRCh38
NC_000023.10:g.85282494C>T , CM000685.1:g.85282494C>T	GRCh37
NC_000023.9:g.85169150C>T	NCBI36
NG_009874.2:g.25073G>A , LRG_699:g.25073G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.116+1G>A MANE Select	ENSP00000350386.2:n.116+1G>A
ENST00000357749.6:c.116+1G>A	ENSP00000350386.2:n.116+1G>A
ENST00000467744.2:n.126+1G>A
ENST00000483950.1:n.146G>A
ENST00000615443.1:c.116+1G>A	ENSP00000484306.1:n.116+1G>A
NM_000390.2:c.116+1G>A , LRG_699t1:c.116+1G>A	NP_000381.1:n.116+1G>A
NM_001145414.2:c.116+1G>A , LRG_699t2:c.116+1G>A	NP_001138886.1:n.116+1G>A
XM_011530839.1:c.-329+1G>A	XP_011529141.1:n.-329+1G>A
NM_000390.3:c.116+1G>A	NP_000381.1:n.116+1G>A
NM_001145414.3:c.116+1G>A	NP_001138886.1:n.116+1G>A
NM_001320959.1:c.-329+1G>A	NP_001307888.1:n.-329+1G>A
NM_001362517.1:c.-329+1G>A	NP_001349446.1:n.-329+1G>A
NM_001362518.1:c.-325+1G>A	NP_001349447.1:n.-325+1G>A
NM_001362519.1:c.-325+1G>A	NP_001349448.1:n.-325+1G>A
XM_017029242.2:c.116+1G>A	XP_016884731.1:n.116+1G>A
XM_017029246.1:c.-325+1G>A	XP_016884735.1:n.-325+1G>A
XM_024452331.1:c.-329+1G>A	XP_024308099.1:n.-329+1G>A
NM_000390.4:c.116+1G>A MANE Select	NP_000381.1:n.116+1G>A
NM_001145414.4:c.116+1G>A	NP_001138886.1:n.116+1G>A
NM_001362518.2:c.-325+1G>A	NP_001349447.1:n.-325+1G>A