Canonical Allele Identifier: CA413788373

Gene: CHM

Linked Data

• ClinVar Variation Id: 861107
• ClinVar RCV Id: RCV001067549
• dbSNP Id: rs1931628708
• MyVariant Identifiers: chrX:g.85236804G>C (hg19) ; chrX:g.85981800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85981800G>C , CM000685.2:g.85981800G>C	GRCh38
NC_000023.10:g.85236804G>C , CM000685.1:g.85236804G>C	GRCh37
NC_000023.9:g.85123460G>C	NCBI36
NG_009874.2:g.70763C>G , LRG_699:g.70763C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.126C>G MANE Select	ENSP00000350386.2:p.Tyr42Ter
ENST00000357749.6:c.126C>G	ENSP00000350386.2:p.Tyr42Ter
ENST00000467744.2:n.126+45691C>G
ENST00000487515.1:n.10C>G
ENST00000615443.1:c.126C>G	ENSP00000484306.1:p.Tyr42Ter
NM_000390.2:c.126C>G , LRG_699t1:c.126C>G	NP_000381.1:p.Tyr42Ter
NM_001145414.2:c.126C>G , LRG_699t2:c.126C>G	NP_001138886.1:p.Tyr42Ter
XM_006724615.2:c.63C>G	XP_006724678.1:p.Tyr21Ter
XM_011530839.1:c.-319C>G	XP_011529141.1:n.-319C>G
NM_000390.3:c.126C>G	NP_000381.1:p.Tyr42Ter
NM_001145414.3:c.126C>G	NP_001138886.1:p.Tyr42Ter
NM_001320959.1:c.-319C>G	NP_001307888.1:n.-319C>G
NM_001362517.1:c.-319C>G	NP_001349446.1:n.-319C>G
NM_001362518.1:c.-315C>G	NP_001349447.1:n.-315C>G
NM_001362519.1:c.-315C>G	NP_001349448.1:n.-315C>G
XM_017029242.2:c.126C>G	XP_016884731.1:p.Tyr42Ter
XM_017029246.1:c.-315C>G	XP_016884735.1:n.-315C>G
XM_024452331.1:c.-319C>G	XP_024308099.1:n.-319C>G
NM_000390.4:c.126C>G MANE Select	NP_000381.1:p.Tyr42Ter
NM_001145414.4:c.126C>G	NP_001138886.1:p.Tyr42Ter
NM_001362518.2:c.-315C>G	NP_001349447.1:n.-315C>G