Canonical Allele Identifier: CA2978775
Community Standard Title: NM_025074.7(FRAS1):c.9819G>A (p.Val3273=)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78511312G>A , CM000666.2:g.78511312G>A GRCh38
NC_000004.11:g.79432466G>A , CM000666.1:g.79432466G>A GRCh37
NC_000004.10:g.79651490G>A NCBI36
NG_015812.1:g.458743G>A
NG_015812.2:g.458743G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.9819G>A MANE Select NP_079350.5:p.Val3273=
ENST00000512123.4:c.9819G>A MANE Select ENSP00000422834.2:p.Val3273=
NM_025074.6:c.9819G>A NP_079350.5:p.Val3273=
ENST00000512123.3:c.9819G>A ENSP00000422834.2:p.Val3273=
ENST00000682513.1:c.9819G>A ENSP00000508201.1:p.Val3273=
XM_006714314.1:c.9813G>A XP_006714377.1:p.Val3271=
XM_006714316.1:c.9591G>A XP_006714379.1:p.Val3197=
XM_006714316.3:c.9591G>A XP_006714379.1:p.Val3197=
XM_011532270.1:c.7518G>A XP_011530572.1:p.Val2506=
XM_011532271.1:c.4707G>A XP_011530573.1:p.Val1569=