Canonical Allele Identifier: CA2979305
Community Standard Title: NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78540900G>A , CM000666.2:g.78540900G>A GRCh38
NC_000004.11:g.79462054G>A , CM000666.1:g.79462054G>A GRCh37
NC_000004.10:g.79681078G>A NCBI36
NG_015812.1:g.488331G>A
NG_015812.2:g.488331G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.11815G>A MANE Select NP_079350.5:p.Ala3939Thr
ENST00000512123.4:c.11815G>A MANE Select ENSP00000422834.2:p.Ala3939Thr
NM_025074.6:c.11815G>A NP_079350.5:p.Ala3939Thr
ENST00000512123.3:c.11815G>A ENSP00000422834.2:p.Ala3939Thr
XM_006714314.1:c.11809G>A XP_006714377.1:p.Ala3937Thr
XM_006714316.1:c.11587G>A XP_006714379.1:p.Ala3863Thr
XM_006714316.3:c.11587G>A XP_006714379.1:p.Ala3863Thr
XM_011532270.1:c.9514G>A XP_011530572.1:p.Ala3172Thr
XM_011532271.1:c.6703G>A XP_011530573.1:p.Ala2235Thr