Canonical Allele Identifier: CA1876913919
Community Standard Title: NM_001735.3(C5):c.55C= (p.Gln19=)
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.121050192G= , CM000671.2:g.121050192G= GRCh38
NC_000009.11:g.123812470G= , CM000671.1:g.123812470G= GRCh37
NC_000009.10:g.122852291G= NCBI36
NG_007364.1:g.5085C= , LRG_28:g.5085C=

Transcript Alleles

HGVS Amino-acid Change
NM_001735.3:c.55C= MANE Select NP_001726.2:p.Gln19=
ENST00000223642.3:c.55C= MANE Select ENSP00000223642.1:p.Gln19=
NM_001317163.1:c.84-3809C= NP_001304092.1:n.84-3809C=
NM_001317163.2:c.84-3809C= NP_001304092.1:n.84-3809C=
NM_001317164.1:c.55C= NP_001304093.1:p.Gln19=
NM_001317164.2:c.55C= NP_001304093.1:p.Gln19=
NM_001735.2:c.55C= , LRG_28t1:c.55C= NP_001726.2:p.Gln19=
ENST00000223642.2:c.55C= ENSP00000223642.1:p.Gln19=
ENST00000696279.1:c.572-3809C=
ENST00000696280.1:n.155-3809C=
ENST00000696281.1:c.84-3809C= ENSP00000512521.1:n.84-3809C=
ENST00000696284.1:n.947-3809C=
ENST00000697922.1:c.*56-3809C= ENSP00000513478.1:n.*56-3809C=
ENST00000697923.1:n.754-3809C=
XM_011518980.1:c.81-3809C= XP_011517282.1:n.81-3809C=
XM_011518981.1:c.84-3809C= XP_011517283.1:n.84-3809C=