Canonical Allele Identifier: CA559065348
Community Standard Title: NM_001737.5(C9):c.1241-12T>C
Gene: C9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.39306804A>G , CM000667.2:g.39306804A>G GRCh38
NC_000005.9:g.39306906A>G , CM000667.1:g.39306906A>G GRCh37
NC_000005.8:g.39342663A>G NCBI36
NG_009894.1:g.62750T>C , LRG_32:g.62750T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001737.5:c.1241-12T>C MANE Select NP_001728.1:n.1241-12T>C
ENST00000263408.5:c.1241-12T>C MANE Select ENSP00000263408.4:n.1241-12T>C
NM_001737.3:c.1241-12T>C , LRG_32t1:c.1241-12T>C NP_001728.1:n.1241-12T>C
NM_001737.4:c.1241-12T>C NP_001728.1:n.1241-12T>C
ENST00000263408.4:c.1241-12T>C ENSP00000263408.4:n.1241-12T>C
ENST00000509186.6:c.1169-12T>C ENSP00000512235.1:n.1169-12T>C
ENST00000695880.1:c.1112-12T>C ENSP00000512236.1:n.1112-12T>C
ENST00000695881.1:c.1241-12T>C ENSP00000512237.1:n.1241-12T>C
ENST00000695882.1:n.468-12T>C