Canonical Allele Identifier: CA127046
Community Standard Title: NM_001737.5(C9):c.355T>G (p.Cys119Gly)
Gene: C9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.39341267A>C , CM000667.2:g.39341267A>C GRCh38
NC_000005.9:g.39341369A>C , CM000667.1:g.39341369A>C GRCh37
NC_000005.8:g.39377126A>C NCBI36
NG_009894.1:g.28287T>G , LRG_32:g.28287T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001737.5:c.355T>G MANE Select NP_001728.1:p.Cys119Gly
ENST00000263408.5:c.355T>G MANE Select ENSP00000263408.4:p.Cys119Gly
NM_001737.3:c.355T>G , LRG_32t1:c.355T>G NP_001728.1:p.Cys119Gly
NM_001737.4:c.355T>G NP_001728.1:p.Cys119Gly
ENST00000263408.4:c.355T>G ENSP00000263408.4:p.Cys119Gly
ENST00000467285.1:n.386T>G
ENST00000483232.6:n.397T>G
ENST00000509186.5:n.326T>G
ENST00000509186.6:c.283T>G ENSP00000512235.1:p.Cys95Gly
ENST00000695880.1:c.355T>G ENSP00000512236.1:p.Cys119Gly
ENST00000695881.1:c.355T>G ENSP00000512237.1:p.Cys119Gly
ENST00000695883.1:n.386T>G