Canonical Allele Identifier: CA357380108
Community Standard Title: NM_025074.7(FRAS1):c.11317G>T (p.Val3773Leu)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78539312G>T , CM000666.2:g.78539312G>T GRCh38
NC_000004.11:g.79460466G>T , CM000666.1:g.79460466G>T GRCh37
NC_000004.10:g.79679490G>T NCBI36
NG_015812.1:g.486743G>T
NG_015812.2:g.486743G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.11317G>T MANE Select NP_079350.5:p.Val3773Leu
ENST00000512123.4:c.11317G>T MANE Select ENSP00000422834.2:p.Val3773Leu
NM_025074.6:c.11317G>T NP_079350.5:p.Val3773Leu
ENST00000512123.3:c.11317G>T ENSP00000422834.2:p.Val3773Leu
XM_006714314.1:c.11311G>T XP_006714377.1:p.Val3771Leu
XM_006714316.1:c.11089G>T XP_006714379.1:p.Val3697Leu
XM_006714316.3:c.11089G>T XP_006714379.1:p.Val3697Leu
XM_011532270.1:c.9016G>T XP_011530572.1:p.Val3006Leu
XM_011532271.1:c.6205G>T XP_011530573.1:p.Val2069Leu