Canonical Allele Identifier: CA10603699
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 279769
ClinVar RCV Id: RCV000313760
dbSNP Id: rs886041174
MyVariant Identifiers: chrX:g.85302487C>A (hg19) chrX:g.86047483C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.86047483C>A , CM000685.2:g.86047483C>A GRCh38
NC_000023.10:g.85302487C>A , CM000685.1:g.85302487C>A GRCh37
NC_000023.9:g.85189143C>A NCBI36
NG_009874.2:g.5080G>T , LRG_699:g.5080G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357749.7:c.49+1G>T MANE Select ENSP00000350386.2:n.49+1G>T
ENST00000357749.6:c.49+1G>T ENSP00000350386.2:n.49+1G>T
ENST00000483950.1:n.78+1G>T
ENST00000615443.1:c.49+1G>T ENSP00000484306.1:n.49+1G>T
NM_000390.2:c.49+1G>T , LRG_699t1:c.49+1G>T NP_000381.1:n.49+1G>T
NM_001145414.2:c.49+1G>T , LRG_699t2:c.49+1G>T NP_001138886.1:n.49+1G>T
NM_000390.3:c.49+1G>T NP_000381.1:n.49+1G>T
NM_001145414.3:c.49+1G>T NP_001138886.1:n.49+1G>T
XM_017029242.2:c.49+1G>T XP_016884731.1:n.49+1G>T
XM_017029246.1:c.-392+1G>T XP_016884735.1:n.-392+1G>T
NM_000390.4:c.49+1G>T MANE Select NP_000381.1:n.49+1G>T
NM_001145414.4:c.49+1G>T NP_001138886.1:n.49+1G>T
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