Canonical Allele Identifier: CA374745975

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724953T>A (hg19) ; chr9:g.120962675T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962675T>A , CM000671.2:g.120962675T>A	GRCh38
NC_000009.11:g.123724953T>A , CM000671.1:g.123724953T>A	GRCh37
NC_000009.10:g.122764774T>A	NCBI36
NG_007364.1:g.92602A>T , LRG_28:g.92602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1534A>T
ENST00000696279.1:c.4820A>T
ENST00000696280.1:n.4589A>T
ENST00000696281.1:c.4518A>T	ENSP00000512521.1:p.Arg1506Ser
ENST00000697921.1:n.3378A>T
ENST00000697922.1:c.*4490A>T	ENSP00000513478.1:n.*4490A>T
ENST00000697923.1:n.4945A>T
ENST00000223642.3:c.4500A>T MANE Select	ENSP00000223642.1:p.Arg1500Ser
ENST00000223642.2:c.4500A>T	ENSP00000223642.1:p.Arg1500Ser
ENST00000480188.1:n.33A>T
NM_001735.2:c.4500A>T , LRG_28t1:c.4500A>T	NP_001726.2:p.Arg1500Ser
XM_011518980.1:c.4515A>T	XP_011517282.1:p.Arg1505Ser
NM_001317163.1:c.4518A>T	NP_001304092.1:p.Arg1506Ser
NM_001317163.2:c.4518A>T	NP_001304092.1:p.Arg1506Ser
NM_001735.3:c.4500A>T MANE Select	NP_001726.2:p.Arg1500Ser