Canonical Allele Identifier: CA2978043
Community Standard Title: NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78470000C>A , CM000666.2:g.78470000C>A GRCh38
NC_000004.11:g.79391154C>A , CM000666.1:g.79391154C>A GRCh37
NC_000004.10:g.79610178C>A NCBI36
NG_015812.1:g.417431C>A
NG_015812.2:g.417431C>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.7280C>A MANE Select NP_079350.5:p.Pro2427Gln
ENST00000512123.4:c.7280C>A MANE Select ENSP00000422834.2:p.Pro2427Gln
NM_025074.6:c.7280C>A NP_079350.5:p.Pro2427Gln
ENST00000512123.3:c.7280C>A ENSP00000422834.2:p.Pro2427Gln
ENST00000682513.1:c.7280C>A ENSP00000508201.1:p.Pro2427Gln
XM_006714314.1:c.7274C>A XP_006714377.1:p.Pro2425Gln
XM_006714316.1:c.7052C>A XP_006714379.1:p.Pro2351Gln
XM_006714316.3:c.7052C>A XP_006714379.1:p.Pro2351Gln
XM_011532270.1:c.4979C>A XP_011530572.1:p.Pro1660Gln
XM_011532271.1:c.2168C>A XP_011530573.1:p.Pro723Gln