Canonical Allele Identifier: CA466940724
Gene: C5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123724950T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120962672T>G , CM000671.2:g.120962672T>G GRCh38
NC_000009.11:g.123724950T>G , CM000671.1:g.123724950T>G GRCh37
NC_000009.10:g.122764771T>G NCBI36
NG_007364.1:g.92605A>C , LRG_28:g.92605A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480188.2:n.1537A>C
ENST00000696279.1:c.4823A>C
ENST00000696280.1:n.4592A>C
ENST00000696281.1:c.4521A>C ENSP00000512521.1:p.Pro1507=
ENST00000697921.1:n.3381A>C
ENST00000697922.1:c.*4493A>C ENSP00000513478.1:n.*4493A>C
ENST00000697923.1:n.4948A>C
ENST00000223642.3:c.4503A>C MANE Select ENSP00000223642.1:p.Pro1501=
ENST00000223642.2:c.4503A>C ENSP00000223642.1:p.Pro1501=
ENST00000480188.1:n.36A>C
NM_001735.2:c.4503A>C , LRG_28t1:c.4503A>C NP_001726.2:p.Pro1501=
XM_011518980.1:c.4518A>C XP_011517282.1:p.Pro1506=
NM_001317163.1:c.4521A>C NP_001304092.1:p.Pro1507=
NM_001317163.2:c.4521A>C NP_001304092.1:p.Pro1507=
NM_001735.3:c.4503A>C MANE Select NP_001726.2:p.Pro1501=