Canonical Allele Identifier: CA335859152
Community Standard Title: NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp)
Gene: FRMD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.132100617T>C , CM000685.2:g.132100617T>C GRCh38
NC_000023.10:g.131234645T>C , CM000685.1:g.131234645T>C GRCh37
NC_000023.9:g.131062326T>C NCBI36
NG_012347.1:g.32406A>G , LRG_867:g.32406A>G

Transcript Alleles

HGVS Amino-acid Change
NM_194277.3:c.157A>G MANE Select NP_919253.1:p.Asn53Asp
ENST00000298542.9:c.157A>G MANE Select ENSP00000298542.3:p.Asn53Asp
NM_001306193.1:c.157A>G NP_001293122.1:p.Asn53Asp
NM_001306193.2:c.157A>G NP_001293122.1:p.Asn53Asp
NM_194277.2:c.157A>G , LRG_867t1:c.157A>G NP_919253.1:p.Asn53Asp
ENST00000298542.8:c.157A>G ENSP00000298542.3:p.Asn53Asp
ENST00000464296.1:c.157A>G ENSP00000417996.1:p.Asn53Asp
ENST00000687717.1:n.415A>G
XM_017029947.2:c.109A>G XP_016885436.1:p.Asn37Asp
XM_017029948.2:c.30-6478A>G XP_016885437.1:n.30-6478A>G