Canonical Allele Identifier: CA374750629

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123731362G>T (hg19) ; chr9:g.120969084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120969084G>T , CM000671.2:g.120969084G>T	GRCh38
NC_000009.11:g.123731362G>T , CM000671.1:g.123731362G>T	GRCh37
NC_000009.10:g.122771183G>T	NCBI36
NG_007364.1:g.86193C>A , LRG_28:g.86193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1231C>A
ENST00000696279.1:c.4517C>A
ENST00000696280.1:n.4286C>A
ENST00000696281.1:c.4215C>A	ENSP00000512521.1:p.Tyr1405Ter
ENST00000697921.1:n.3075C>A
ENST00000697922.1:c.*4187C>A	ENSP00000513478.1:n.*4187C>A
ENST00000697923.1:n.4642C>A
ENST00000223642.3:c.4197C>A MANE Select	ENSP00000223642.1:p.Tyr1399Ter
ENST00000223642.2:c.4197C>A	ENSP00000223642.1:p.Tyr1399Ter
NM_001735.2:c.4197C>A , LRG_28t1:c.4197C>A	NP_001726.2:p.Tyr1399Ter
XM_011518980.1:c.4212C>A	XP_011517282.1:p.Tyr1404Ter
NM_001317163.1:c.4215C>A	NP_001304092.1:p.Tyr1405Ter
NM_001317163.2:c.4215C>A	NP_001304092.1:p.Tyr1405Ter
NM_001735.3:c.4197C>A MANE Select	NP_001726.2:p.Tyr1399Ter