Canonical Allele Identifier: CA2720653766
Gene: C5 HGNC NCBI

Linked Data

dbSNP Id: rs2131679582

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120969132C>T , CM000671.2:g.120969132C>T GRCh38
NC_000009.11:g.123731410C>T , CM000671.1:g.123731410C>T GRCh37
NC_000009.10:g.122771231C>T NCBI36
NG_007364.1:g.86145G>A , LRG_28:g.86145G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1197-14G>A
ENST00000696279.1:c.4483-14G>A
ENST00000696280.1:n.4252-14G>A
ENST00000696281.1:c.4181-14G>A ENSP00000512521.1:n.4181-14G>A
ENST00000697921.1:n.3041-14G>A
ENST00000697922.1:c.*4153-14G>A ENSP00000513478.1:n.*4153-14G>A
ENST00000697923.1:n.4608-14G>A
ENST00000223642.3:c.4163-14G>A MANE Select ENSP00000223642.1:n.4163-14G>A
ENST00000223642.2:c.4163-14G>A ENSP00000223642.1:n.4163-14G>A
NM_001735.2:c.4163-14G>A , LRG_28t1:c.4163-14G>A NP_001726.2:n.4163-14G>A
XM_011518980.1:c.4178-14G>A XP_011517282.1:n.4178-14G>A
NM_001317163.1:c.4181-14G>A NP_001304092.1:n.4181-14G>A
NM_001317163.2:c.4181-14G>A NP_001304092.1:n.4181-14G>A
NM_001735.3:c.4163-14G>A MANE Select NP_001726.2:n.4163-14G>A