Canonical Allele Identifier: CA374747624
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962942A>G , CM000671.2:g.120962942A>G GRCh38
NC_000009.11:g.123725220A>G , CM000671.1:g.123725220A>G GRCh37
NC_000009.10:g.122765041A>G NCBI36
NG_007364.1:g.92335T>C , LRG_28:g.92335T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1383T>C
ENST00000696279.1:c.4669T>C
ENST00000696280.1:n.4438T>C
ENST00000696281.1:c.4367T>C ENSP00000512521.1:p.Phe1456Ser
ENST00000697921.1:n.3227T>C
ENST00000697922.1:c.*4339T>C ENSP00000513478.1:n.*4339T>C
ENST00000697923.1:n.4794T>C
ENST00000223642.3:c.4349T>C MANE Select ENSP00000223642.1:p.Phe1450Ser
ENST00000223642.2:c.4349T>C ENSP00000223642.1:p.Phe1450Ser
NM_001735.2:c.4349T>C , LRG_28t1:c.4349T>C NP_001726.2:p.Phe1450Ser
XM_011518980.1:c.4364T>C XP_011517282.1:p.Phe1455Ser
NM_001317163.1:c.4367T>C NP_001304092.1:p.Phe1456Ser
NM_001317163.2:c.4367T>C NP_001304092.1:p.Phe1456Ser
NM_001735.3:c.4349T>C MANE Select NP_001726.2:p.Phe1450Ser