Canonical Allele Identifier: CA413785219

Gene: CHM

Linked Data

• MyVariant Identifiers: chrX:g.85211287T>G (hg19) ; chrX:g.85956282T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956282T>G , CM000685.2:g.85956282T>G	GRCh38
NC_000023.10:g.85211287T>G , CM000685.1:g.85211287T>G	GRCh37
NC_000023.9:g.85097943T>G	NCBI36
NG_009874.2:g.96281A>C , LRG_699:g.96281A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1037A>C MANE Select	ENSP00000350386.2:p.Glu346Ala
ENST00000357749.6:c.1037A>C	ENSP00000350386.2:p.Glu346Ala
ENST00000467744.2:n.126+71209A>C
NM_000390.2:c.1037A>C , LRG_699t1:c.1037A>C	NP_000381.1:p.Glu346Ala
XM_006724615.2:c.974A>C	XP_006724678.1:p.Glu325Ala
XM_011530839.1:c.593A>C	XP_011529141.1:p.Glu198Ala
NM_000390.3:c.1037A>C	NP_000381.1:p.Glu346Ala
NM_001320959.1:c.593A>C	NP_001307888.1:p.Glu198Ala
NM_001362517.1:c.593A>C	NP_001349446.1:p.Glu198Ala
NM_001362518.1:c.593A>C	NP_001349447.1:p.Glu198Ala
NM_001362519.1:c.593A>C	NP_001349448.1:p.Glu198Ala
XM_017029242.2:c.1037A>C	XP_016884731.1:p.Glu346Ala
XM_017029246.1:c.593A>C	XP_016884735.1:p.Glu198Ala
XM_024452331.1:c.593A>C	XP_024308099.1:p.Glu198Ala
NM_000390.4:c.1037A>C MANE Select	NP_000381.1:p.Glu346Ala
NM_001362518.2:c.593A>C	NP_001349447.1:p.Glu198Ala