Canonical Allele Identifier: CA1876880147
Community Standard Title: NM_001735.3(C5):c.2653C= (p.Arg885=)
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120997684G= , CM000671.2:g.120997684G= GRCh38
NC_000009.11:g.123759962G= , CM000671.1:g.123759962G= GRCh37
NC_000009.10:g.122799783G= NCBI36
NG_007364.1:g.57593C= , LRG_28:g.57593C=

Transcript Alleles

HGVS Amino-acid Change
NM_001735.3:c.2653C= MANE Select NP_001726.2:p.Arg885=
ENST00000223642.3:c.2653C= MANE Select ENSP00000223642.1:p.Arg885=
NM_001317163.1:c.2671C= NP_001304092.1:p.Arg891=
NM_001317163.2:c.2671C= NP_001304092.1:p.Arg891=
NM_001735.2:c.2653C= , LRG_28t1:c.2653C= NP_001726.2:p.Arg885=
ENST00000223642.2:c.2653C= ENSP00000223642.1:p.Arg885=
ENST00000696279.1:c.2973C=
ENST00000696280.1:n.2742C=
ENST00000696281.1:c.2671C= ENSP00000512521.1:p.Arg891=
ENST00000697921.1:n.1531C=
ENST00000697922.1:c.*2643C= ENSP00000513478.1:n.*2643C=
ENST00000697923.1:n.3258C=
XM_011518980.1:c.2668C= XP_011517282.1:p.Arg890=
XM_011518981.1:c.2671C= XP_011517283.1:p.Arg891=