Canonical Allele Identifier: CA1876890869
Community Standard Title: NM_001735.3(C5):c.1115A= (p.Lys372=)
Gene: C5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.121023405T= , CM000671.2:g.121023405T= GRCh38
NC_000009.11:g.123785683T= , CM000671.1:g.123785683T= GRCh37
NC_000009.10:g.122825504T= NCBI36
NG_007364.1:g.31872A= , LRG_28:g.31872A=

Transcript Alleles

HGVS Amino-acid Change
NM_001735.3:c.1115A= MANE Select NP_001726.2:p.Lys372=
ENST00000223642.3:c.1115A= MANE Select ENSP00000223642.1:p.Lys372=
NM_001317163.1:c.1133A= NP_001304092.1:p.Lys378=
NM_001317163.2:c.1133A= NP_001304092.1:p.Lys378=
NM_001317164.1:c.1115A= NP_001304093.1:p.Lys372=
NM_001317164.2:c.1115A= NP_001304093.1:p.Lys372=
NM_001735.2:c.1115A= , LRG_28t1:c.1115A= NP_001726.2:p.Lys372=
ENST00000223642.2:c.1115A= ENSP00000223642.1:p.Lys372=
ENST00000466280.2:c.110A= ENSP00000513491.1:p.Lys37=
ENST00000696279.1:c.1621A=
ENST00000696280.1:n.1204A=
ENST00000696281.1:c.1133A= ENSP00000512521.1:p.Lys378=
ENST00000697922.1:c.*1105A= ENSP00000513478.1:n.*1105A=
ENST00000697923.1:n.1720A=
XM_011518980.1:c.1130A= XP_011517282.1:p.Lys377=
XM_011518981.1:c.1133A= XP_011517283.1:p.Lys378=