Canonical Allele Identifier: CA2573053084

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120981952A>T , CM000671.2:g.120981952A>T	GRCh38
NC_000009.11:g.123744230A>T , CM000671.1:g.123744230A>T	GRCh37
NC_000009.10:g.122784051A>T	NCBI36
NG_007364.1:g.73325T>A , LRG_28:g.73325T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001735.3:c.3391-13T>A MANE Select	NP_001726.2:n.3391-13T>A
ENST00000223642.3:c.3391-13T>A MANE Select	ENSP00000223642.1:n.3391-13T>A
NM_001317163.1:c.3409-13T>A	NP_001304092.1:n.3409-13T>A
NM_001317163.2:c.3409-13T>A	NP_001304092.1:n.3409-13T>A
NM_001735.2:c.3391-13T>A , LRG_28t1:c.3391-13T>A	NP_001726.2:n.3391-13T>A
ENST00000223642.2:c.3391-13T>A	ENSP00000223642.1:n.3391-13T>A
ENST00000480188.2:n.302-13T>A
ENST00000696279.1:c.3711-13T>A
ENST00000696280.1:n.3480-13T>A
ENST00000696281.1:c.3409-13T>A	ENSP00000512521.1:n.3409-13T>A
ENST00000697921.1:n.2269-13T>A
ENST00000697922.1:c.*3381-13T>A	ENSP00000513478.1:n.*3381-13T>A
ENST00000697923.1:n.3836-13T>A
XM_011518980.1:c.3406-13T>A	XP_011517282.1:n.3406-13T>A
XM_011518981.1:c.3409-13T>A	XP_011517283.1:n.3409-13T>A