Canonical Allele Identifier: CA2978278
Community Standard Title: NM_025074.7(FRAS1):c.8098+1G>T
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78478062G>T , CM000666.2:g.78478062G>T GRCh38
NC_000004.11:g.79399216G>T , CM000666.1:g.79399216G>T GRCh37
NC_000004.10:g.79618240G>T NCBI36
NG_015812.1:g.425493G>T
NG_015812.2:g.425493G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.8098+1G>T MANE Select NP_079350.5:n.8098+1G>T
ENST00000512123.4:c.8098+1G>T MANE Select ENSP00000422834.2:n.8098+1G>T
NM_025074.6:c.8098+1G>T NP_079350.5:n.8098+1G>T
ENST00000512123.3:c.8098+1G>T ENSP00000422834.2:n.8098+1G>T
ENST00000682513.1:c.8098+1G>T ENSP00000508201.1:n.8098+1G>T
XM_006714314.1:c.8092+1G>T XP_006714377.1:n.8092+1G>T
XM_006714316.1:c.7870+1G>T XP_006714379.1:n.7870+1G>T
XM_006714316.3:c.7870+1G>T XP_006714379.1:n.7870+1G>T
XM_011532270.1:c.5797+1G>T XP_011530572.1:n.5797+1G>T
XM_011532271.1:c.2986+1G>T XP_011530573.1:n.2986+1G>T