Canonical Allele Identifier: CA1630847971
Community Standard Title: NM_001735.3(C5):c.1632C= (p.Tyr544=)
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.121017727G= , CM000671.2:g.121017727G= GRCh38
NC_000009.11:g.123780005G= , CM000671.1:g.123780005G= GRCh37
NC_000009.10:g.122819826G= NCBI36
NG_007364.1:g.37550C= , LRG_28:g.37550C=

Transcript Alleles

HGVS Amino-acid Change
NM_001735.3:c.1632C= MANE Select NP_001726.2:p.Tyr544=
ENST00000223642.3:c.1632C= MANE Select ENSP00000223642.1:p.Tyr544=
NM_001317163.1:c.1650C= NP_001304092.1:p.Tyr550=
NM_001317163.2:c.1650C= NP_001304092.1:p.Tyr550=
NM_001317164.1:c.1632C= NP_001304093.1:p.Tyr544=
NM_001317164.2:c.1632C= NP_001304093.1:p.Tyr544=
NM_001735.2:c.1632C= , LRG_28t1:c.1632C= NP_001726.2:p.Tyr544=
ENST00000223642.2:c.1632C= ENSP00000223642.1:p.Tyr544=
ENST00000466280.2:c.627C= ENSP00000513491.1:p.Tyr209=
ENST00000696279.1:c.1952C=
ENST00000696280.1:n.1721C=
ENST00000696281.1:c.1650C= ENSP00000512521.1:p.Tyr550=
ENST00000697921.1:n.510C=
ENST00000697922.1:c.*1622C= ENSP00000513478.1:n.*1622C=
ENST00000697923.1:n.2237C=
XM_011518980.1:c.1647C= XP_011517282.1:p.Tyr549=
XM_011518981.1:c.1650C= XP_011517283.1:p.Tyr550=