Canonical Allele Identifier: CA374749028

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123780007A>T (hg19) ; chr9:g.121017729A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121017729A>T , CM000671.2:g.121017729A>T	GRCh38
NC_000009.11:g.123780007A>T , CM000671.1:g.123780007A>T	GRCh37
NC_000009.10:g.122819828A>T	NCBI36
NG_007364.1:g.37548T>A , LRG_28:g.37548T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000466280.2:c.625T>A	ENSP00000513491.1:p.Tyr209Asn
ENST00000696279.1:c.1950T>A
ENST00000696280.1:n.1719T>A
ENST00000696281.1:c.1648T>A	ENSP00000512521.1:p.Tyr550Asn
ENST00000697921.1:n.508T>A
ENST00000697922.1:c.*1620T>A	ENSP00000513478.1:n.*1620T>A
ENST00000697923.1:n.2235T>A
ENST00000223642.3:c.1630T>A MANE Select	ENSP00000223642.1:p.Tyr544Asn
ENST00000223642.2:c.1630T>A	ENSP00000223642.1:p.Tyr544Asn
NM_001735.2:c.1630T>A , LRG_28t1:c.1630T>A	NP_001726.2:p.Tyr544Asn
XM_011518980.1:c.1645T>A	XP_011517282.1:p.Tyr549Asn
XM_011518981.1:c.1648T>A	XP_011517283.1:p.Tyr550Asn
NM_001317163.1:c.1648T>A	NP_001304092.1:p.Tyr550Asn
NM_001317164.1:c.1630T>A	NP_001304093.1:p.Tyr544Asn
NM_001317163.2:c.1648T>A	NP_001304092.1:p.Tyr550Asn
NM_001317164.2:c.1630T>A	NP_001304093.1:p.Tyr544Asn
NM_001735.3:c.1630T>A MANE Select	NP_001726.2:p.Tyr544Asn