Canonical Allele Identifier: CA12999718

Linked Data

dbSNP Id: rs10818488

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120942809A>G , CM000671.2:g.120942809A>G GRCh38
NC_000009.11:g.123705087A>G , CM000671.1:g.123705087A>G GRCh37
NC_000009.10:g.122744908A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000696279.1:c.5899-8855T>C (C5)
ENST00000696280.1:n.5668-8855T>C (C5)
ENST00000696281.1:c.*548-8855T>C (C5) ENSP00000512521.1:n.*548-8855T>C
ENST00000697921.1:n.4457-8855T>C (C5)
ENST00000697922.1:c.*5569-8855T>C (C5) ENSP00000513478.1:n.*5569-8855T>C
NR_148450.1:n.1341T>C (C5-OT1)