Canonical Allele Identifier: CA2244642313
Gene: PFN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945846G= , CM000679.2:g.4945846G= GRCh38
NC_000017.10:g.4849141G= , CM000679.1:g.4849141G= GRCh37
NC_000017.9:g.4789886G= NCBI36
NG_012063.2:g.4756G=
NG_032945.1:g.8241C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.*54C= MANE Select ENSP00000225655.5:n.*54C=
ENST00000225655.5:c.*54C= ENSP00000225655.5:n.*54C=
ENST00000574872.1:c.*54C= ENSP00000465019.1:n.*54C=
NM_005022.3:c.*54C= NP_005013.1:n.*54C=
XM_017024761.1:c.*561C= XP_016880250.1:n.*561C=
NM_001375991.1:c.*561C= NP_001362920.1:n.*561C=
NM_005022.4:c.*54C= MANE Select NP_005013.1:n.*54C=
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