Canonical Allele Identifier: CA10347855
Gene: HCCS HGNC NCBI
ARHGAP6 HGNC NCBI

Linked Data

dbSNP Id: rs770027168
gnomAD v2: X-11139002-A-G
gnomAD v3: X-11120882-A-G
gnomAD v4: X-11120882-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.11120882A>G , CM000685.2:g.11120882A>G GRCh38
NC_000023.10:g.11139002A>G , CM000685.1:g.11139002A>G GRCh37
NC_000023.9:g.11048923A>G NCBI36
NG_016460.1:g.14588A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380762.5:c.522-25A>G (HCCS) MANE Select ENSP00000370139.4:n.522-25A>G
ENST00000657361.1:c.1733-837T>C (ARHGAP6) ENSP00000499351.1:n.1733-837T>C
ENST00000321143.8:c.522-25A>G (HCCS) ENSP00000326579.4:n.522-25A>G
ENST00000380762.4:c.522-25A>G (HCCS) ENSP00000370139.4:n.522-25A>G
ENST00000380763.7:c.522-25A>G (HCCS) ENSP00000370140.3:n.522-25A>G
NM_001122608.2:c.522-25A>G (HCCS) NP_001116080.1:n.522-25A>G
NM_001171991.2:c.522-25A>G (HCCS) NP_001165462.1:n.522-25A>G
NM_005333.4:c.522-25A>G (HCCS) NP_005324.3:n.522-25A>G
XM_024452368.1:c.582-25A>G (HCCS) XP_024308136.1:n.582-25A>G
NM_005333.5:c.522-25A>G (HCCS) MANE Select NP_005324.3:n.522-25A>G
NM_001122608.3:c.522-25A>G (HCCS) NP_001116080.1:n.522-25A>G
NM_001171991.3:c.522-25A>G (HCCS) NP_001165462.1:n.522-25A>G