Canonical Allele Identifier: CA1630847970
Community Standard Title: NM_001735.3(C5):c.2404G= (p.Val802=)
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.121006922C= , CM000671.2:g.121006922C= GRCh38
NC_000009.11:g.123769200C= , CM000671.1:g.123769200C= GRCh37
NC_000009.10:g.122809021C= NCBI36
NG_007364.1:g.48355G= , LRG_28:g.48355G=

Transcript Alleles

HGVS Amino-acid Change
NM_001735.3:c.2404G= MANE Select NP_001726.2:p.Val802=
ENST00000223642.3:c.2404G= MANE Select ENSP00000223642.1:p.Val802=
NM_001317163.1:c.2422G= NP_001304092.1:p.Val808=
NM_001317163.2:c.2422G= NP_001304092.1:p.Val808=
NM_001317164.1:c.2404G= NP_001304093.1:p.Val802=
NM_001317164.2:c.2404G= NP_001304093.1:p.Val802=
NM_001735.2:c.2404G= , LRG_28t1:c.2404G= NP_001726.2:p.Val802=
ENST00000223642.2:c.2404G= ENSP00000223642.1:p.Val802=
ENST00000466280.1:n.7G=
ENST00000466280.2:c.1399G= ENSP00000513491.1:p.Val467=
ENST00000696279.1:c.2724G=
ENST00000696280.1:n.2493G=
ENST00000696281.1:c.2422G= ENSP00000512521.1:p.Val808=
ENST00000697921.1:n.1282G=
ENST00000697922.1:c.*2394G= ENSP00000513478.1:n.*2394G=
ENST00000697923.1:n.3009G=
XM_011518980.1:c.2419G= XP_011517282.1:p.Val807=
XM_011518981.1:c.2422G= XP_011517283.1:p.Val808=