Canonical Allele Identifier: CA374747574
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962932G>C , CM000671.2:g.120962932G>C GRCh38
NC_000009.11:g.123725210G>C , CM000671.1:g.123725210G>C GRCh37
NC_000009.10:g.122765031G>C NCBI36
NG_007364.1:g.92345C>G , LRG_28:g.92345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1393C>G
ENST00000696279.1:c.4679C>G
ENST00000696280.1:n.4448C>G
ENST00000696281.1:c.4377C>G ENSP00000512521.1:p.Tyr1459Ter
ENST00000697921.1:n.3237C>G
ENST00000697922.1:c.*4349C>G ENSP00000513478.1:n.*4349C>G
ENST00000697923.1:n.4804C>G
ENST00000223642.3:c.4359C>G MANE Select ENSP00000223642.1:p.Tyr1453Ter
ENST00000223642.2:c.4359C>G ENSP00000223642.1:p.Tyr1453Ter
NM_001735.2:c.4359C>G , LRG_28t1:c.4359C>G NP_001726.2:p.Tyr1453Ter
XM_011518980.1:c.4374C>G XP_011517282.1:p.Tyr1458Ter
NM_001317163.1:c.4377C>G NP_001304092.1:p.Tyr1459Ter
NM_001317163.2:c.4377C>G NP_001304092.1:p.Tyr1459Ter
NM_001735.3:c.4359C>G MANE Select NP_001726.2:p.Tyr1453Ter