Canonical Allele Identifier: CA1977508083

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61815236T= , CM000673.2:g.61815236T= GRCh38
NC_000011.9:g.61582708T= , CM000673.1:g.61582708T= GRCh37
NC_000011.8:g.61339284T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_013402.7:c.375+1319A= (FADS1) MANE Select NP_037534.5:n.375+1319A=
ENST00000350997.12:c.375+1319A= (FADS1) MANE Select ENSP00000322229.9:n.375+1319A=
NM_013402.4:c.375+1319A= (FADS1) NP_037534.3:n.375+1319A=
NM_013402.6:c.375+1319A= (FADS1) NP_037534.5:n.375+1319A=
NR_031729.1:n.5A= (MIR1908)
ENST00000350997.11:c.375+1319A= (FADS1) ENSP00000322229.9:n.375+1319A=
ENST00000421879.5:c.-48-1883A= (FADS1) ENSP00000416043.1:n.-48-1883A=
ENST00000424501.5:c.217+1319A= (FADS1)
ENST00000433932.5:c.-49+707A= (FADS1) ENSP00000405087.1:n.-49+707A=
ENST00000448607.1:c.-48-1883A= (FADS1) ENSP00000391229.1:n.-48-1883A=
ENST00000466716.5:c.-264+1181A= (FADS1) ENSP00000446270.1:n.-264+1181A=
ENST00000473263.1:c.-163+550A= (FADS1) ENSP00000445442.1:n.-163+550A=
ENST00000491310.5:c.224+1319A= (FADS1)
ENST00000540767.5:c.-49+1026A= (FADS1) ENSP00000441871.1:n.-49+1026A=
ENST00000541683.1:n.947A= (FADS1)
ENST00000542506.5:c.-489A= (FADS1) ENSP00000441403.1:n.-489A=
ENST00000544309.5:c.-49+1756A= (FADS1) ENSP00000439790.1:n.-49+1756A=
ENST00000544696.5:c.-49+691A= (FADS1) ENSP00000443037.1:n.-49+691A=
ENST00000574708.5:c.-54-10796T= (FADS2) ENSP00000458917.1:n.-54-10796T=
XM_011545022.1:c.-1A= (FADS1) XP_011543324.1:n.-1A=
XM_011545022.2:c.-1A= (FADS1) XP_011543324.1:n.-1A=