Canonical Allele Identifier: CA261228

Gene: CHM

Linked Data

• ClinVar Variation Id: 39809
• ClinVar RCV Id: RCV000033030
• dbSNP Id: rs397514603
• gnomAD v4: X-85879054-T-C
• MyVariant Identifiers: chrX:g.85134059T>C (hg19) ; chrX:g.85879054T>C (hg38)
• PubMed: PMID:21905166

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85879054T>C , CM000685.2:g.85879054T>C	GRCh38
NC_000023.10:g.85134059T>C , CM000685.1:g.85134059T>C	GRCh37
NC_000023.9:g.85020715T>C	NCBI36
NG_009874.2:g.173509A>G , LRG_699:g.173509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1520A>G MANE Select	ENSP00000350386.2:p.His507Arg
ENST00000357749.6:c.1520A>G	ENSP00000350386.2:p.His507Arg
ENST00000467744.2:n.127-15960A>G
NM_000390.2:c.1520A>G , LRG_699t1:c.1520A>G	NP_000381.1:p.His507Arg
XM_006724615.2:c.1457A>G	XP_006724678.1:p.His486Arg
XM_011530839.1:c.1076A>G	XP_011529141.1:p.His359Arg
NM_000390.3:c.1520A>G	NP_000381.1:p.His507Arg
NM_001320959.1:c.1076A>G	NP_001307888.1:p.His359Arg
NM_001362517.1:c.1076A>G	NP_001349446.1:p.His359Arg
NM_001362518.1:c.1076A>G	NP_001349447.1:p.His359Arg
NM_001362519.1:c.1076A>G	NP_001349448.1:p.His359Arg
XM_017029242.2:c.1520A>G	XP_016884731.1:p.His507Arg
XM_017029246.1:c.1076A>G	XP_016884735.1:p.His359Arg
XM_024452331.1:c.1076A>G	XP_024308099.1:p.His359Arg
NM_000390.4:c.1520A>G MANE Select	NP_000381.1:p.His507Arg
NM_001362518.2:c.1076A>G	NP_001349447.1:p.His359Arg