Canonical Allele Identifier: CA374746037
Gene: C5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962681G>C , CM000671.2:g.120962681G>C GRCh38
NC_000009.11:g.123724959G>C , CM000671.1:g.123724959G>C GRCh37
NC_000009.10:g.122764780G>C NCBI36
NG_007364.1:g.92596C>G , LRG_28:g.92596C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.1528C>G
ENST00000696279.1:c.4814C>G
ENST00000696280.1:n.4583C>G
ENST00000696281.1:c.4512C>G ENSP00000512521.1:p.Tyr1504Ter
ENST00000697921.1:n.3372C>G
ENST00000697922.1:c.*4484C>G ENSP00000513478.1:n.*4484C>G
ENST00000697923.1:n.4939C>G
ENST00000223642.3:c.4494C>G MANE Select ENSP00000223642.1:p.Tyr1498Ter
ENST00000223642.2:c.4494C>G ENSP00000223642.1:p.Tyr1498Ter
ENST00000480188.1:n.27C>G
NM_001735.2:c.4494C>G , LRG_28t1:c.4494C>G NP_001726.2:p.Tyr1498Ter
XM_011518980.1:c.4509C>G XP_011517282.1:p.Tyr1503Ter
NM_001317163.1:c.4512C>G NP_001304092.1:p.Tyr1504Ter
NM_001317163.2:c.4512C>G NP_001304092.1:p.Tyr1504Ter
NM_001735.3:c.4494C>G MANE Select NP_001726.2:p.Tyr1498Ter