Canonical Allele Identifier: CA374747427

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725199T>G (hg19) ; chr9:g.120962921T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962921T>G , CM000671.2:g.120962921T>G	GRCh38
NC_000009.11:g.123725199T>G , CM000671.1:g.123725199T>G	GRCh37
NC_000009.10:g.122765020T>G	NCBI36
NG_007364.1:g.92356A>C , LRG_28:g.92356A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1404A>C
ENST00000696279.1:c.4690A>C
ENST00000696280.1:n.4459A>C
ENST00000696281.1:c.4388A>C	ENSP00000512521.1:p.Asp1463Ala
ENST00000697921.1:n.3248A>C
ENST00000697922.1:c.*4360A>C	ENSP00000513478.1:n.*4360A>C
ENST00000697923.1:n.4815A>C
ENST00000223642.3:c.4370A>C MANE Select	ENSP00000223642.1:p.Asp1457Ala
ENST00000223642.2:c.4370A>C	ENSP00000223642.1:p.Asp1457Ala
NM_001735.2:c.4370A>C , LRG_28t1:c.4370A>C	NP_001726.2:p.Asp1457Ala
XM_011518980.1:c.4385A>C	XP_011517282.1:p.Asp1462Ala
NM_001317163.1:c.4388A>C	NP_001304092.1:p.Asp1463Ala
NM_001317163.2:c.4388A>C	NP_001304092.1:p.Asp1463Ala
NM_001735.3:c.4370A>C MANE Select	NP_001726.2:p.Asp1457Ala