Canonical Allele Identifier: CA2978780
Community Standard Title: NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78511320T>C , CM000666.2:g.78511320T>C GRCh38
NC_000004.11:g.79432474T>C , CM000666.1:g.79432474T>C GRCh37
NC_000004.10:g.79651498T>C NCBI36
NG_015812.1:g.458751T>C
NG_015812.2:g.458751T>C

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.9827T>C MANE Select NP_079350.5:p.Val3276Ala
ENST00000512123.4:c.9827T>C MANE Select ENSP00000422834.2:p.Val3276Ala
NM_025074.6:c.9827T>C NP_079350.5:p.Val3276Ala
ENST00000512123.3:c.9827T>C ENSP00000422834.2:p.Val3276Ala
ENST00000682513.1:c.9827T>C ENSP00000508201.1:p.Val3276Ala
XM_006714314.1:c.9821T>C XP_006714377.1:p.Val3274Ala
XM_006714316.1:c.9599T>C XP_006714379.1:p.Val3200Ala
XM_006714316.3:c.9599T>C XP_006714379.1:p.Val3200Ala
XM_011532270.1:c.7526T>C XP_011530572.1:p.Val2509Ala
XM_011532271.1:c.4715T>C XP_011530573.1:p.Val1572Ala