Canonical Allele Identifier: CA1876865818
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962730A= , CM000671.2:g.120962730A= GRCh38
NC_000009.11:g.123725008A= , CM000671.1:g.123725008A= GRCh37
NC_000009.10:g.122764829A= NCBI36
NG_007364.1:g.92547T= , LRG_28:g.92547T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1479T=
ENST00000696279.1:c.4765T=
ENST00000696280.1:n.4534T=
ENST00000696281.1:c.4463T= ENSP00000512521.1:p.Leu1488=
ENST00000697921.1:n.3323T=
ENST00000697922.1:c.*4435T= ENSP00000513478.1:n.*4435T=
ENST00000697923.1:n.4890T=
ENST00000223642.3:c.4445T= MANE Select ENSP00000223642.1:p.Leu1482=
ENST00000223642.2:c.4445T= ENSP00000223642.1:p.Leu1482=
NM_001735.2:c.4445T= , LRG_28t1:c.4445T= NP_001726.2:p.Leu1482=
XM_011518980.1:c.4460T= XP_011517282.1:p.Leu1487=
NM_001317163.1:c.4463T= NP_001304092.1:p.Leu1488=
NM_001317163.2:c.4463T= NP_001304092.1:p.Leu1488=
NM_001735.3:c.4445T= MANE Select NP_001726.2:p.Leu1482=