Canonical Allele Identifier: CA412055828

Gene: HCCS ARHGAP6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.11121739C>T , CM000685.2:g.11121739C>T	GRCh38
NC_000023.10:g.11139859C>T , CM000685.1:g.11139859C>T	GRCh37
NC_000023.9:g.11049780C>T	NCBI36
NG_016460.1:g.15445C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005333.5:c.736C>T (HCCS) MANE Select	NP_005324.3:p.Arg246Cys
ENST00000380762.5:c.736C>T (HCCS) MANE Select	ENSP00000370139.4:p.Arg246Cys
NM_001122608.2:c.736C>T (HCCS)	NP_001116080.1:p.Arg246Cys
NM_001122608.3:c.736C>T (HCCS)	NP_001116080.1:p.Arg246Cys
NM_001171991.2:c.736C>T (HCCS)	NP_001165462.1:p.Arg246Cys
NM_001171991.3:c.736C>T (HCCS)	NP_001165462.1:p.Arg246Cys
NM_005333.4:c.736C>T (HCCS)	NP_005324.3:p.Arg246Cys
ENST00000321143.8:c.736C>T (HCCS)	ENSP00000326579.4:p.Arg246Cys
ENST00000380762.4:c.736C>T (HCCS)	ENSP00000370139.4:p.Arg246Cys
ENST00000380763.7:c.736C>T (HCCS)	ENSP00000370140.3:p.Arg246Cys
ENST00000657361.1:c.1733-1694G>A (ARHGAP6)	ENSP00000499351.1:n.1733-1694G>A
XM_024452368.1:c.796C>T (HCCS)	XP_024308136.1:p.Arg266Cys