Canonical Allele Identifier: CA1977498514

Gene: FADS1 FADS2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61803311T= , CM000673.2:g.61803311T=	GRCh38
NC_000011.9:g.61570783T= , CM000673.1:g.61570783T=	GRCh37
NC_000011.8:g.61327359T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350997.12:c.1248+52A= (FADS1) MANE Select	ENSP00000322229.9:n.1248+52A=
ENST00000350997.11:c.1248+52A= (FADS1)	ENSP00000322229.9:n.1248+52A=
ENST00000433932.5:c.825+52A= (FADS1)	ENSP00000405087.1:n.825+52A=
ENST00000460649.5:c.183+52A= (FADS1)	ENSP00000445253.1:n.183+52A=
ENST00000496123.6:n.522+52A= (FADS1)
ENST00000536991.5:c.321+52A= (FADS1)	ENSP00000439097.1:n.321+52A=
ENST00000542506.5:c.825+52A= (FADS1)	ENSP00000441403.1:n.825+52A=
ENST00000574708.5:c.-55+10283T= (FADS2)	ENSP00000458917.1:n.-55+10283T=
NM_013402.4:c.1248+52A= (FADS1)	NP_037534.3:n.1248+52A=
XM_011545022.1:c.1035+52A= (FADS1)	XP_011543324.1:n.1035+52A=
NM_013402.6:c.1248+52A= (FADS1)	NP_037534.5:n.1248+52A=
XM_011545022.2:c.1035+52A= (FADS1)	XP_011543324.1:n.1035+52A=
NM_013402.7:c.1248+52A= (FADS1) MANE Select	NP_037534.5:n.1248+52A=