Canonical Allele Identifier: CA342082

Gene: HCCS ARHGAP6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11118574G>A , CM000685.2:g.11118574G>A	GRCh38
NC_000023.10:g.11136694G>A , CM000685.1:g.11136694G>A	GRCh37
NC_000023.9:g.11046615G>A	NCBI36
NG_016460.1:g.12280G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005333.5:c.475G>A (HCCS) MANE Select	NP_005324.3:p.Glu159Lys
ENST00000380762.5:c.475G>A (HCCS) MANE Select	ENSP00000370139.4:p.Glu159Lys
NM_001122608.2:c.475G>A (HCCS)	NP_001116080.1:p.Glu159Lys
NM_001122608.3:c.475G>A (HCCS)	NP_001116080.1:p.Glu159Lys
NM_001171991.2:c.475G>A (HCCS)	NP_001165462.1:p.Glu159Lys
NM_001171991.3:c.475G>A (HCCS)	NP_001165462.1:p.Glu159Lys
NM_005333.4:c.475G>A (HCCS)	NP_005324.3:p.Glu159Lys
ENST00000321143.8:c.475G>A (HCCS)	ENSP00000326579.4:p.Glu159Lys
ENST00000380762.4:c.475G>A (HCCS)	ENSP00000370139.4:p.Glu159Lys
ENST00000380763.7:c.475G>A (HCCS)	ENSP00000370140.3:p.Glu159Lys
ENST00000657361.1:c.1784-215C>T (ARHGAP6)	ENSP00000499351.1:n.1784-215C>T
XM_024452368.1:c.535G>A (HCCS)	XP_024308136.1:p.Glu179Lys