Canonical Allele Identifier: CA205553
Gene: CCDC22 HGNC NCBI

Linked Data

ClinVar Variation Id: 210617
ClinVar RCV Id: RCV000192619 RCV000886379 RCV002500587
dbSNP Id: rs191605685
ExAC: X:49099743 C / T
gnomAD v2: X-49099743-C-T
gnomAD v3: X-49243277-C-T
gnomAD v4: X-49243277-C-T
MyVariant Identifiers: chrX:g.49099743C>T (hg19) chrX:g.49243277C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49243277C>T , CM000685.2:g.49243277C>T GRCh38
NC_000023.10:g.49099743C>T , CM000685.1:g.49099743C>T GRCh37
NC_000023.9:g.48986687C>T NCBI36
NG_021311.2:g.12813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376227.4:c.536-7C>T MANE Select ENSP00000365401.3:n.536-7C>T
ENST00000376227.3:c.536-7C>T ENSP00000365401.3:n.536-7C>T
ENST00000490300.1:n.679-7C>T
ENST00000496651.5:n.627-7C>T
NM_014008.4:c.536-7C>T NP_054727.1:n.536-7C>T
XM_005272599.2:c.533-7C>T XP_005272656.1:n.533-7C>T
XR_430506.1:n.638-7C>T
XM_005272599.4:c.533-7C>T XP_005272656.1:n.533-7C>T
XR_430506.3:n.651-7C>T
NM_014008.5:c.536-7C>T MANE Select NP_054727.1:n.536-7C>T
Search 100 bp 5'
Search 100 bp 3'