Canonical Allele Identifier: CA413787475

Gene: CHM

Linked Data

• ClinVar Variation Id: 2769686
• ClinVar RCV Id: RCV003578860
• MyVariant Identifiers: chrX:g.85133970C>G (hg19) ; chrX:g.85878965C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878965C>G , CM000685.2:g.85878965C>G	GRCh38
NC_000023.10:g.85133970C>G , CM000685.1:g.85133970C>G	GRCh37
NC_000023.9:g.85020626C>G	NCBI36
NG_009874.2:g.173598G>C , LRG_699:g.173598G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1609G>C MANE Select	ENSP00000350386.2:p.Glu537Gln
ENST00000357749.6:c.1609G>C	ENSP00000350386.2:p.Glu537Gln
ENST00000467744.2:n.127-15871G>C
NM_000390.2:c.1609G>C , LRG_699t1:c.1609G>C	NP_000381.1:p.Glu537Gln
XM_006724615.2:c.1546G>C	XP_006724678.1:p.Glu516Gln
XM_011530839.1:c.1165G>C	XP_011529141.1:p.Glu389Gln
NM_000390.3:c.1609G>C	NP_000381.1:p.Glu537Gln
NM_001320959.1:c.1165G>C	NP_001307888.1:p.Glu389Gln
NM_001362517.1:c.1165G>C	NP_001349446.1:p.Glu389Gln
NM_001362518.1:c.1165G>C	NP_001349447.1:p.Glu389Gln
NM_001362519.1:c.1165G>C	NP_001349448.1:p.Glu389Gln
XM_017029242.2:c.1609G>C	XP_016884731.1:p.Glu537Gln
XM_017029246.1:c.1165G>C	XP_016884735.1:p.Glu389Gln
XM_024452331.1:c.1165G>C	XP_024308099.1:p.Glu389Gln
NM_000390.4:c.1609G>C MANE Select	NP_000381.1:p.Glu537Gln
NM_001362518.2:c.1165G>C	NP_001349447.1:p.Glu389Gln