Canonical Allele Identifier: CA2136729347
Gene: FRMD6 HGNC NCBI

Linked Data

dbSNP Id: rs1890439170
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.51610328C>A , CM000676.2:g.51610328C>A GRCh38
NC_000014.8:g.52077046C>A , CM000676.1:g.52077046C>A GRCh37
NC_000014.7:g.51146796C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356218.8:c.-147+39918C>A ENSP00000348550.4:n.-147+39918C>A
ENST00000554745.1:n.278-33124C>A
ENST00000556137.5:n.508+39918C>A
NM_001042481.2:c.-147+39918C>A NP_001035946.1:n.-147+39918C>A
XM_011536423.1:c.-147+39918C>A XP_011534725.1:n.-147+39918C>A
XM_011536424.1:c.-147+39918C>A XP_011534726.1:n.-147+39918C>A
XM_024449472.1:c.-147+39918C>A XP_024305240.1:n.-147+39918C>A
XM_024449473.1:c.-146-79363C>A XP_024305241.1:n.-146-79363C>A
NM_001042481.3:c.-147+39918C>A NP_001035946.1:n.-147+39918C>A
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