Canonical Allele Identifier: CA2977676
Community Standard Title: NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)
Gene: FRAS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78446880G>A , CM000666.2:g.78446880G>A GRCh38
NC_000004.11:g.79368034G>A , CM000666.1:g.79368034G>A GRCh37
NC_000004.10:g.79587058G>A NCBI36
NG_015812.1:g.394311G>A
NG_015812.2:g.394311G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025074.7:c.6010G>A MANE Select NP_079350.5:p.Gly2004Ser
ENST00000512123.4:c.6010G>A MANE Select ENSP00000422834.2:p.Gly2004Ser
NM_025074.6:c.6010G>A NP_079350.5:p.Gly2004Ser
ENST00000512123.3:c.6010G>A ENSP00000422834.2:p.Gly2004Ser
ENST00000682513.1:c.6010G>A ENSP00000508201.1:p.Gly2004Ser
ENST00000684159.1:c.6010G>A ENSP00000506875.1:p.Gly2004Ser
XM_006714314.1:c.6004G>A XP_006714377.1:p.Gly2002Ser
XM_006714316.1:c.6010G>A XP_006714379.1:p.Gly2004Ser
XM_006714316.3:c.6010G>A XP_006714379.1:p.Gly2004Ser
XM_011532270.1:c.3709G>A XP_011530572.1:p.Gly1237Ser
XM_011532271.1:c.898G>A XP_011530573.1:p.Gly300Ser