Canonical Allele Identifier: CA397338030
Gene: PFN1 HGNC NCBI

Linked Data

gnomAD v4: 17-4945910-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945910G>T , CM000679.2:g.4945910G>T GRCh38
NC_000017.10:g.4849205G>T , CM000679.1:g.4849205G>T GRCh37
NC_000017.9:g.4789950G>T NCBI36
NG_012063.2:g.4820G>T
NG_032945.1:g.8177C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.413C>A MANE Select ENSP00000225655.5:p.Ser138Tyr
ENST00000225655.5:c.413C>A ENSP00000225655.5:p.Ser138Tyr
ENST00000574872.1:c.305C>A ENSP00000465019.1:p.Ser102Tyr
NM_005022.3:c.413C>A NP_005013.1:p.Ser138Tyr
XM_017024761.1:c.*497C>A XP_016880250.1:n.*497C>A
NM_001375991.1:c.*497C>A NP_001362920.1:n.*497C>A
NM_005022.4:c.413C>A MANE Select NP_005013.1:p.Ser138Tyr