Canonical Allele Identifier: CA2739273632

Gene: CHM

Linked Data

• ClinVar Variation Id: 2791601
• ClinVar RCV Id: RCV003674562

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85981724A>C , CM000685.2:g.85981724A>C	GRCh38
NC_000023.10:g.85236728A>C , CM000685.1:g.85236728A>C	GRCh37
NC_000023.9:g.85123384A>C	NCBI36
NG_009874.2:g.70839T>G , LRG_699:g.70839T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.189+13T>G MANE Select	ENSP00000350386.2:n.189+13T>G
ENST00000357749.6:c.189+13T>G	ENSP00000350386.2:n.189+13T>G
ENST00000467744.2:n.126+45767T>G
ENST00000487515.1:n.73+13T>G
ENST00000615443.1:c.189+13T>G	ENSP00000484306.1:n.189+13T>G
NM_000390.2:c.189+13T>G , LRG_699t1:c.189+13T>G	NP_000381.1:n.189+13T>G
NM_001145414.2:c.189+13T>G , LRG_699t2:c.189+13T>G	NP_001138886.1:n.189+13T>G
XM_006724615.2:c.126+13T>G	XP_006724678.1:n.126+13T>G
XM_011530839.1:c.-256+13T>G	XP_011529141.1:n.-256+13T>G
NM_000390.3:c.189+13T>G	NP_000381.1:n.189+13T>G
NM_001145414.3:c.189+13T>G	NP_001138886.1:n.189+13T>G
NM_001320959.1:c.-256+13T>G	NP_001307888.1:n.-256+13T>G
NM_001362517.1:c.-256+13T>G	NP_001349446.1:n.-256+13T>G
NM_001362518.1:c.-252+13T>G	NP_001349447.1:n.-252+13T>G
NM_001362519.1:c.-252+13T>G	NP_001349448.1:n.-252+13T>G
XM_017029242.2:c.189+13T>G	XP_016884731.1:n.189+13T>G
XM_017029246.1:c.-252+13T>G	XP_016884735.1:n.-252+13T>G
XM_024452331.1:c.-256+13T>G	XP_024308099.1:n.-256+13T>G
NM_000390.4:c.189+13T>G MANE Select	NP_000381.1:n.189+13T>G
NM_001145414.4:c.189+13T>G	NP_001138886.1:n.189+13T>G
NM_001362518.2:c.-252+13T>G	NP_001349447.1:n.-252+13T>G