Canonical Allele Identifier: CA2978154
Community Standard Title: NM_025074.7(FRAS1):c.7574G>A (p.Arg2525His)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78473489G>A , CM000666.2:g.78473489G>A GRCh38
NC_000004.11:g.79394643G>A , CM000666.1:g.79394643G>A GRCh37
NC_000004.10:g.79613667G>A NCBI36
NG_015812.1:g.420920G>A
NG_015812.2:g.420920G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.7574G>A MANE Select NP_079350.5:p.Arg2525His
ENST00000512123.4:c.7574G>A MANE Select ENSP00000422834.2:p.Arg2525His
NM_025074.6:c.7574G>A NP_079350.5:p.Arg2525His
ENST00000512123.3:c.7574G>A ENSP00000422834.2:p.Arg2525His
ENST00000682513.1:c.7574G>A ENSP00000508201.1:p.Arg2525His
XM_006714314.1:c.7568G>A XP_006714377.1:p.Arg2523His
XM_006714316.1:c.7346G>A XP_006714379.1:p.Arg2449His
XM_006714316.3:c.7346G>A XP_006714379.1:p.Arg2449His
XM_011532270.1:c.5273G>A XP_011530572.1:p.Arg1758His
XM_011532271.1:c.2462G>A XP_011530573.1:p.Arg821His