Canonical Allele Identifier: CA374746733
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962755A>T , CM000671.2:g.120962755A>T GRCh38
NC_000009.11:g.123725033A>T , CM000671.1:g.123725033A>T GRCh37
NC_000009.10:g.122764854A>T NCBI36
NG_007364.1:g.92522T>A , LRG_28:g.92522T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000480188.2:n.1454T>A
ENST00000696279.1:c.4740T>A
ENST00000696280.1:n.4509T>A
ENST00000696281.1:c.4438T>A ENSP00000512521.1:p.Cys1480Ser
ENST00000697921.1:n.3298T>A
ENST00000697922.1:c.*4410T>A ENSP00000513478.1:n.*4410T>A
ENST00000697923.1:n.4865T>A
ENST00000223642.3:c.4420T>A MANE Select ENSP00000223642.1:p.Cys1474Ser
ENST00000223642.2:c.4420T>A ENSP00000223642.1:p.Cys1474Ser
NM_001735.2:c.4420T>A , LRG_28t1:c.4420T>A NP_001726.2:p.Cys1474Ser
XM_011518980.1:c.4435T>A XP_011517282.1:p.Cys1479Ser
NM_001317163.1:c.4438T>A NP_001304092.1:p.Cys1480Ser
NM_001317163.2:c.4438T>A NP_001304092.1:p.Cys1480Ser
NM_001735.3:c.4420T>A MANE Select NP_001726.2:p.Cys1474Ser