Canonical Allele Identifier: CA374746275

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123724985G>A (hg19) ; chr9:g.120962707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962707G>A , CM000671.2:g.120962707G>A	GRCh38
NC_000009.11:g.123724985G>A , CM000671.1:g.123724985G>A	GRCh37
NC_000009.10:g.122764806G>A	NCBI36
NG_007364.1:g.92570C>T , LRG_28:g.92570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1502C>T
ENST00000696279.1:c.4788C>T
ENST00000696280.1:n.4557C>T
ENST00000696281.1:c.4486C>T	ENSP00000512521.1:p.Pro1496Ser
ENST00000697921.1:n.3346C>T
ENST00000697922.1:c.*4458C>T	ENSP00000513478.1:n.*4458C>T
ENST00000697923.1:n.4913C>T
ENST00000223642.3:c.4468C>T MANE Select	ENSP00000223642.1:p.Pro1490Ser
ENST00000223642.2:c.4468C>T	ENSP00000223642.1:p.Pro1490Ser
ENST00000480188.1:n.1C>T
NM_001735.2:c.4468C>T , LRG_28t1:c.4468C>T	NP_001726.2:p.Pro1490Ser
XM_011518980.1:c.4483C>T	XP_011517282.1:p.Pro1495Ser
NM_001317163.1:c.4486C>T	NP_001304092.1:p.Pro1496Ser
NM_001317163.2:c.4486C>T	NP_001304092.1:p.Pro1496Ser
NM_001735.3:c.4468C>T MANE Select	NP_001726.2:p.Pro1490Ser