Canonical Allele Identifier: CA2978716
Community Standard Title: NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78508854G>A , CM000666.2:g.78508854G>A GRCh38
NC_000004.11:g.79430008G>A , CM000666.1:g.79430008G>A GRCh37
NC_000004.10:g.79649032G>A NCBI36
NG_015812.1:g.456285G>A
NG_015812.2:g.456285G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.9628G>A MANE Select NP_079350.5:p.Ala3210Thr
ENST00000512123.4:c.9628G>A MANE Select ENSP00000422834.2:p.Ala3210Thr
NM_025074.6:c.9628G>A NP_079350.5:p.Ala3210Thr
ENST00000512123.3:c.9628G>A ENSP00000422834.2:p.Ala3210Thr
ENST00000682513.1:c.9628G>A ENSP00000508201.1:p.Ala3210Thr
XM_006714314.1:c.9622G>A XP_006714377.1:p.Ala3208Thr
XM_006714316.1:c.9400G>A XP_006714379.1:p.Ala3134Thr
XM_006714316.3:c.9400G>A XP_006714379.1:p.Ala3134Thr
XM_011532270.1:c.7327G>A XP_011530572.1:p.Ala2443Thr
XM_011532271.1:c.4516G>A XP_011530573.1:p.Ala1506Thr