Canonical Allele Identifier: CA2693090392
Gene: HCCS HGNC NCBI
ARHGAP6 HGNC NCBI

Linked Data

gnomAD v4: X-11120887-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11120887T>C , CM000685.2:g.11120887T>C GRCh38
NC_000023.10:g.11139007T>C , CM000685.1:g.11139007T>C GRCh37
NC_000023.9:g.11048928T>C NCBI36
NG_016460.1:g.14593T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380762.5:c.522-20T>C (HCCS) MANE Select ENSP00000370139.4:n.522-20T>C
ENST00000657361.1:c.1733-842A>G (ARHGAP6) ENSP00000499351.1:n.1733-842A>G
ENST00000321143.8:c.522-20T>C (HCCS) ENSP00000326579.4:n.522-20T>C
ENST00000380762.4:c.522-20T>C (HCCS) ENSP00000370139.4:n.522-20T>C
ENST00000380763.7:c.522-20T>C (HCCS) ENSP00000370140.3:n.522-20T>C
NM_001122608.2:c.522-20T>C (HCCS) NP_001116080.1:n.522-20T>C
NM_001171991.2:c.522-20T>C (HCCS) NP_001165462.1:n.522-20T>C
NM_005333.4:c.522-20T>C (HCCS) NP_005324.3:n.522-20T>C
XM_024452368.1:c.582-20T>C (HCCS) XP_024308136.1:n.582-20T>C
NM_005333.5:c.522-20T>C (HCCS) MANE Select NP_005324.3:n.522-20T>C
NM_001122608.3:c.522-20T>C (HCCS) NP_001116080.1:n.522-20T>C
NM_001171991.3:c.522-20T>C (HCCS) NP_001165462.1:n.522-20T>C