Canonical Allele Identifier: CA2136729494
Gene: FRMD6 HGNC NCBI

Linked Data

dbSNP Id: rs1890447561
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.51610459A>C , CM000676.2:g.51610459A>C GRCh38
NC_000014.8:g.52077177A>C , CM000676.1:g.52077177A>C GRCh37
NC_000014.7:g.51146927A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356218.8:c.-147+40049A>C ENSP00000348550.4:n.-147+40049A>C
ENST00000554745.1:n.278-32993A>C
ENST00000556137.5:n.508+40049A>C
NM_001042481.2:c.-147+40049A>C NP_001035946.1:n.-147+40049A>C
XM_011536423.1:c.-147+40049A>C XP_011534725.1:n.-147+40049A>C
XM_011536424.1:c.-147+40049A>C XP_011534726.1:n.-147+40049A>C
XM_024449472.1:c.-147+40049A>C XP_024305240.1:n.-147+40049A>C
XM_024449473.1:c.-146-79232A>C XP_024305241.1:n.-146-79232A>C
NM_001042481.3:c.-147+40049A>C NP_001035946.1:n.-147+40049A>C
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