Canonical Allele Identifier: CA343131524
Community Standard Title: NM_000130.5(F5):c.5209-2A>G
Gene: F5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169529820T>C , CM000663.2:g.169529820T>C GRCh38
NC_000001.10:g.169499058T>C , CM000663.1:g.169499058T>C GRCh37
NC_000001.9:g.167765682T>C NCBI36
NG_011806.1:g.61712A>G , LRG_553:g.61712A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000130.5:c.5209-2A>G MANE Select NP_000121.2:n.5209-2A>G
ENST00000367797.9:c.5209-2A>G MANE Select ENSP00000356771.3:n.5209-2A>G
NM_000130.4:c.5209-2A>G , LRG_553t1:c.5209-2A>G NP_000121.2:n.5209-2A>G
ENST00000367796.3:c.5224-2A>G ENSP00000356770.3:n.5224-2A>G
ENST00000367797.7:c.5209-2A>G ENSP00000356771.3:n.5209-2A>G
XM_017000660.2:c.4798-2A>G XP_016856149.1:n.4798-2A>G
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