Canonical Allele Identifier: CA374746015

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724957T>G (hg19) ; chr9:g.120962679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962679T>G , CM000671.2:g.120962679T>G	GRCh38
NC_000009.11:g.123724957T>G , CM000671.1:g.123724957T>G	GRCh37
NC_000009.10:g.122764778T>G	NCBI36
NG_007364.1:g.92598A>C , LRG_28:g.92598A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1530A>C
ENST00000696279.1:c.4816A>C
ENST00000696280.1:n.4585A>C
ENST00000696281.1:c.4514A>C	ENSP00000512521.1:p.His1505Pro
ENST00000697921.1:n.3374A>C
ENST00000697922.1:c.*4486A>C	ENSP00000513478.1:n.*4486A>C
ENST00000697923.1:n.4941A>C
ENST00000223642.3:c.4496A>C MANE Select	ENSP00000223642.1:p.His1499Pro
ENST00000223642.2:c.4496A>C	ENSP00000223642.1:p.His1499Pro
ENST00000480188.1:n.29A>C
NM_001735.2:c.4496A>C , LRG_28t1:c.4496A>C	NP_001726.2:p.His1499Pro
XM_011518980.1:c.4511A>C	XP_011517282.1:p.His1504Pro
NM_001317163.1:c.4514A>C	NP_001304092.1:p.His1505Pro
NM_001317163.2:c.4514A>C	NP_001304092.1:p.His1505Pro
NM_001735.3:c.4496A>C MANE Select	NP_001726.2:p.His1499Pro