Canonical Allele Identifier: CA374748996

Gene: C5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466280.2:c.627C>G	ENSP00000513491.1:p.Tyr209Ter
ENST00000696279.1:c.1952C>G
ENST00000696280.1:n.1721C>G
ENST00000696281.1:c.1650C>G	ENSP00000512521.1:p.Tyr550Ter
ENST00000697921.1:n.510C>G
ENST00000697922.1:c.*1622C>G	ENSP00000513478.1:n.*1622C>G
ENST00000697923.1:n.2237C>G
ENST00000223642.3:c.1632C>G MANE Select	ENSP00000223642.1:p.Tyr544Ter
ENST00000223642.2:c.1632C>G	ENSP00000223642.1:p.Tyr544Ter
NM_001735.2:c.1632C>G , LRG_28t1:c.1632C>G	NP_001726.2:p.Tyr544Ter
XM_011518980.1:c.1647C>G	XP_011517282.1:p.Tyr549Ter
XM_011518981.1:c.1650C>G	XP_011517283.1:p.Tyr550Ter
NM_001317163.1:c.1650C>G	NP_001304092.1:p.Tyr550Ter
NM_001317164.1:c.1632C>G	NP_001304093.1:p.Tyr544Ter
NM_001317163.2:c.1650C>G	NP_001304092.1:p.Tyr550Ter
NM_001317164.2:c.1632C>G	NP_001304093.1:p.Tyr544Ter
NM_001735.3:c.1632C>G MANE Select	NP_001726.2:p.Tyr544Ter