Canonical Allele Identifier: CA10347854

Gene: HCCS ARHGAP6

Linked Data

• dbSNP Id: rs746898229
• ExAC: X:11138997 A / G
• gnomAD v2: X-11138997-A-G
• gnomAD v4: X-11120877-A-G
• MyVariant Identifiers: chrX:g.11138997A>G (hg19) ; chrX:g.11120877A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11120877A>G , CM000685.2:g.11120877A>G	GRCh38
NC_000023.10:g.11138997A>G , CM000685.1:g.11138997A>G	GRCh37
NC_000023.9:g.11048918A>G	NCBI36
NG_016460.1:g.14583A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380762.5:c.522-30A>G (HCCS) MANE Select	ENSP00000370139.4:n.522-30A>G
ENST00000657361.1:c.1733-832T>C (ARHGAP6)	ENSP00000499351.1:n.1733-832T>C
ENST00000321143.8:c.522-30A>G (HCCS)	ENSP00000326579.4:n.522-30A>G
ENST00000380762.4:c.522-30A>G (HCCS)	ENSP00000370139.4:n.522-30A>G
ENST00000380763.7:c.522-30A>G (HCCS)	ENSP00000370140.3:n.522-30A>G
NM_001122608.2:c.522-30A>G (HCCS)	NP_001116080.1:n.522-30A>G
NM_001171991.2:c.522-30A>G (HCCS)	NP_001165462.1:n.522-30A>G
NM_005333.4:c.522-30A>G (HCCS)	NP_005324.3:n.522-30A>G
XM_024452368.1:c.582-30A>G (HCCS)	XP_024308136.1:n.582-30A>G
NM_005333.5:c.522-30A>G (HCCS) MANE Select	NP_005324.3:n.522-30A>G
NM_001122608.3:c.522-30A>G (HCCS)	NP_001116080.1:n.522-30A>G
NM_001171991.3:c.522-30A>G (HCCS)	NP_001165462.1:n.522-30A>G