Canonical Allele Identifier: CA342088
Gene: HCCS HGNC NCBI
ARHGAP6 HGNC NCBI

Linked Data

ClinVar Variation Id: 11671
ClinVar RCV Id: RCV000020632
dbSNP Id: rs121917889
MyVariant Identifiers: chrX:g.11139772C>T (hg19) chrX:g.11121652C>T (hg38)
PubMed: PMID:17033964 PMID:20301767
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11121652C>T , CM000685.2:g.11121652C>T GRCh38
NC_000023.10:g.11139772C>T , CM000685.1:g.11139772C>T GRCh37
NC_000023.9:g.11049693C>T NCBI36
NG_016460.1:g.15358C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380762.5:c.649C>T (HCCS) MANE Select ENSP00000370139.4:p.Arg217Cys
ENST00000657361.1:c.1733-1607G>A (ARHGAP6) ENSP00000499351.1:n.1733-1607G>A
ENST00000321143.8:c.649C>T (HCCS) ENSP00000326579.4:p.Arg217Cys
ENST00000380762.4:c.649C>T (HCCS) ENSP00000370139.4:p.Arg217Cys
ENST00000380763.7:c.649C>T (HCCS) ENSP00000370140.3:p.Arg217Cys
NM_001122608.2:c.649C>T (HCCS) NP_001116080.1:p.Arg217Cys
NM_001171991.2:c.649C>T (HCCS) NP_001165462.1:p.Arg217Cys
NM_005333.4:c.649C>T (HCCS) NP_005324.3:p.Arg217Cys
XM_024452368.1:c.709C>T (HCCS) XP_024308136.1:p.Arg237Cys
NM_005333.5:c.649C>T (HCCS) MANE Select NP_005324.3:p.Arg217Cys
NM_001122608.3:c.649C>T (HCCS) NP_001116080.1:p.Arg217Cys
NM_001171991.3:c.649C>T (HCCS) NP_001165462.1:p.Arg217Cys
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