Canonical Allele Identifier: CA517490971

Gene: CHM

Linked Data

• ClinVar Variation Id: 1144589
• ClinVar RCV Id: RCV001483126
• dbSNP Id: rs2147663118
• MyVariant Identifiers: chrX:g.85211238A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956233A>T , CM000685.2:g.85956233A>T	GRCh38
NC_000023.10:g.85211238A>T , CM000685.1:g.85211238A>T	GRCh37
NC_000023.9:g.85097894A>T	NCBI36
NG_009874.2:g.96330T>A , LRG_699:g.96330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1086T>A MANE Select	ENSP00000350386.2:p.Leu362=
ENST00000357749.6:c.1086T>A	ENSP00000350386.2:p.Leu362=
ENST00000467744.2:n.126+71258T>A
NM_000390.2:c.1086T>A , LRG_699t1:c.1086T>A	NP_000381.1:p.Leu362=
XM_006724615.2:c.1023T>A	XP_006724678.1:p.Leu341=
XM_011530839.1:c.642T>A	XP_011529141.1:p.Leu214=
NM_000390.3:c.1086T>A	NP_000381.1:p.Leu362=
NM_001320959.1:c.642T>A	NP_001307888.1:p.Leu214=
NM_001362517.1:c.642T>A	NP_001349446.1:p.Leu214=
NM_001362518.1:c.642T>A	NP_001349447.1:p.Leu214=
NM_001362519.1:c.642T>A	NP_001349448.1:p.Leu214=
XM_017029242.2:c.1086T>A	XP_016884731.1:p.Leu362=
XM_017029246.1:c.642T>A	XP_016884735.1:p.Leu214=
XM_024452331.1:c.642T>A	XP_024308099.1:p.Leu214=
NM_000390.4:c.1086T>A MANE Select	NP_000381.1:p.Leu362=
NM_001362518.2:c.642T>A	NP_001349447.1:p.Leu214=