Canonical Allele Identifier: CA2979183
Community Standard Title: NM_025074.7(FRAS1):c.11298+1G>A
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78537201G>A , CM000666.2:g.78537201G>A GRCh38
NC_000004.11:g.79458355G>A , CM000666.1:g.79458355G>A GRCh37
NC_000004.10:g.79677379G>A NCBI36
NG_015812.1:g.484632G>A
NG_015812.2:g.484632G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.11298+1G>A MANE Select NP_079350.5:n.11298+1G>A
ENST00000512123.4:c.11298+1G>A MANE Select ENSP00000422834.2:n.11298+1G>A
NM_025074.6:c.11298+1G>A NP_079350.5:n.11298+1G>A
ENST00000512123.3:c.11298+1G>A ENSP00000422834.2:n.11298+1G>A
XM_006714314.1:c.11292+1G>A XP_006714377.1:n.11292+1G>A
XM_006714316.1:c.11070+1G>A XP_006714379.1:n.11070+1G>A
XM_006714316.3:c.11070+1G>A XP_006714379.1:n.11070+1G>A
XM_011532270.1:c.8997+1G>A XP_011530572.1:n.8997+1G>A
XM_011532271.1:c.6186+1G>A XP_011530573.1:n.6186+1G>A