Canonical Allele Identifier: CA2785814391

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120980422A>G , CM000671.2:g.120980422A>G	GRCh38
NC_000009.11:g.123742700A>G , CM000671.1:g.123742700A>G	GRCh37
NC_000009.10:g.122782521A>G	NCBI36
NG_007364.1:g.74855T>C , LRG_28:g.74855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.398-168T>C
ENST00000696279.1:c.3807-168T>C
ENST00000696280.1:n.3576-168T>C
ENST00000696281.1:c.3505-168T>C	ENSP00000512521.1:n.3505-168T>C
ENST00000697921.1:n.2365-168T>C
ENST00000697922.1:c.*3477-168T>C	ENSP00000513478.1:n.*3477-168T>C
ENST00000697923.1:n.3932-168T>C
ENST00000223642.3:c.3487-168T>C MANE Select	ENSP00000223642.1:n.3487-168T>C
ENST00000223642.2:c.3487-168T>C	ENSP00000223642.1:n.3487-168T>C
ENST00000489802.1:n.50-168T>C
NM_001735.2:c.3487-168T>C , LRG_28t1:c.3487-168T>C	NP_001726.2:n.3487-168T>C
XM_011518980.1:c.3502-168T>C	XP_011517282.1:n.3502-168T>C
NM_001317163.1:c.3505-168T>C	NP_001304092.1:n.3505-168T>C
NM_001317163.2:c.3505-168T>C	NP_001304092.1:n.3505-168T>C
NM_001735.3:c.3487-168T>C MANE Select	NP_001726.2:n.3487-168T>C