Canonical Allele Identifier: CA10465388

Gene: CHM

Linked Data

• ClinVar Variation Id: 1962419
• ClinVar RCV Id: RCV002735098
• dbSNP Id: rs371078095
• ExAC: X:85155639 G / A
• gnomAD v2: X-85155639-G-A
• gnomAD v3: X-85900634-G-A
• gnomAD v4: X-85900634-G-A
• MyVariant Identifiers: chrX:g.85155639G>A (hg19) ; chrX:g.85900634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85900634G>A , CM000685.2:g.85900634G>A	GRCh38
NC_000023.10:g.85155639G>A , CM000685.1:g.85155639G>A	GRCh37
NC_000023.9:g.85042295G>A	NCBI36
NG_009874.2:g.151929C>T , LRG_699:g.151929C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000357749.7:c.1413+12C>T MANE Select	ENSP00000350386.2:n.1413+12C>T
ENST00000357749.6:c.1413+12C>T	ENSP00000350386.2:n.1413+12C>T
ENST00000467744.2:n.127-37540C>T
NM_000390.2:c.1413+12C>T , LRG_699t1:c.1413+12C>T	NP_000381.1:n.1413+12C>T
XM_006724615.2:c.1350+12C>T	XP_006724678.1:n.1350+12C>T
XM_011530839.1:c.969+12C>T	XP_011529141.1:n.969+12C>T
NM_000390.3:c.1413+12C>T	NP_000381.1:n.1413+12C>T
NM_001320959.1:c.969+12C>T	NP_001307888.1:n.969+12C>T
NM_001362517.1:c.969+12C>T	NP_001349446.1:n.969+12C>T
NM_001362518.1:c.969+12C>T	NP_001349447.1:n.969+12C>T
NM_001362519.1:c.969+12C>T	NP_001349448.1:n.969+12C>T
XM_017029242.2:c.1413+12C>T	XP_016884731.1:n.1413+12C>T
XM_017029246.1:c.969+12C>T	XP_016884735.1:n.969+12C>T
XM_024452331.1:c.969+12C>T	XP_024308099.1:n.969+12C>T
NM_000390.4:c.1413+12C>T MANE Select	NP_000381.1:n.1413+12C>T
NM_001362518.2:c.969+12C>T	NP_001349447.1:n.969+12C>T