Canonical Allele Identifier: CA439980977
Community Standard Title: NM_025074.7(FRAS1):c.7317G>C (p.Thr2439=)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78470037G>C , CM000666.2:g.78470037G>C GRCh38
NC_000004.11:g.79391191G>C , CM000666.1:g.79391191G>C GRCh37
NC_000004.10:g.79610215G>C NCBI36
NG_015812.1:g.417468G>C
NG_015812.2:g.417468G>C

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.7317G>C MANE Select NP_079350.5:p.Thr2439=
ENST00000512123.4:c.7317G>C MANE Select ENSP00000422834.2:p.Thr2439=
NM_025074.6:c.7317G>C NP_079350.5:p.Thr2439=
ENST00000512123.3:c.7317G>C ENSP00000422834.2:p.Thr2439=
ENST00000682513.1:c.7317G>C ENSP00000508201.1:p.Thr2439=
XM_006714314.1:c.7311G>C XP_006714377.1:p.Thr2437=
XM_006714316.1:c.7089G>C XP_006714379.1:p.Thr2363=
XM_006714316.3:c.7089G>C XP_006714379.1:p.Thr2363=
XM_011532270.1:c.5016G>C XP_011530572.1:p.Thr1672=
XM_011532271.1:c.2205G>C XP_011530573.1:p.Thr735=