Canonical Allele Identifier: CA2979255
Community Standard Title: NM_025074.7(FRAS1):c.11554C>T (p.Arg3852Ter)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78540639C>T , CM000666.2:g.78540639C>T GRCh38
NC_000004.11:g.79461793C>T , CM000666.1:g.79461793C>T GRCh37
NC_000004.10:g.79680817C>T NCBI36
NG_015812.1:g.488070C>T
NG_015812.2:g.488070C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.11554C>T MANE Select NP_079350.5:p.Arg3852Ter
ENST00000512123.4:c.11554C>T MANE Select ENSP00000422834.2:p.Arg3852Ter
NM_025074.6:c.11554C>T NP_079350.5:p.Arg3852Ter
ENST00000512123.3:c.11554C>T ENSP00000422834.2:p.Arg3852Ter
XM_006714314.1:c.11548C>T XP_006714377.1:p.Arg3850Ter
XM_006714316.1:c.11326C>T XP_006714379.1:p.Arg3776Ter
XM_006714316.3:c.11326C>T XP_006714379.1:p.Arg3776Ter
XM_011532270.1:c.9253C>T XP_011530572.1:p.Arg3085Ter
XM_011532271.1:c.6442C>T XP_011530573.1:p.Arg2148Ter