Canonical Allele Identifier: CA397338032
Gene: PFN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4945911A>C , CM000679.2:g.4945911A>C GRCh38
NC_000017.10:g.4849206A>C , CM000679.1:g.4849206A>C GRCh37
NC_000017.9:g.4789951A>C NCBI36
NG_012063.2:g.4821A>C
NG_032945.1:g.8176T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225655.6:c.412T>G MANE Select ENSP00000225655.5:p.Ser138Ala
ENST00000225655.5:c.412T>G ENSP00000225655.5:p.Ser138Ala
ENST00000574872.1:c.304T>G ENSP00000465019.1:p.Ser102Ala
NM_005022.3:c.412T>G NP_005013.1:p.Ser138Ala
XM_017024761.1:c.*496T>G XP_016880250.1:n.*496T>G
NM_001375991.1:c.*496T>G NP_001362920.1:n.*496T>G
NM_005022.4:c.412T>G MANE Select NP_005013.1:p.Ser138Ala