Canonical Allele Identifier: CA2580575732
Community Standard Title: NC_000011.10:g.61828092C>A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61828092C>A , CM000673.2:g.61828092C>A GRCh38
NC_000011.9:g.61595564C>A , CM000673.1:g.61595564C>A GRCh37
NC_000011.8:g.61352140C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001281501.1:c.142-9686C>A (FADS2) NP_001268430.1:n.142-9686C>A
NM_001281502.1:c.115-9686C>A (FADS2) NP_001268431.1:n.115-9686C>A
NM_004265.3:c.-299C>A (FADS2) NP_004256.1:n.-299C>A
ENST00000257261.10:c.142-9686C>A (FADS2) ENSP00000257261.6:n.142-9686C>A
ENST00000278840.8:c.-299C>A (FADS2) ENSP00000278840.4:n.-299C>A
ENST00000421879.5:c.-49+1109G>T (FADS1) ENSP00000416043.1:n.-49+1109G>T
ENST00000448607.1:c.-49+358G>T (FADS1) ENSP00000391229.1:n.-49+358G>T
ENST00000518606.5:c.-160+661C>A (FADS2) ENSP00000430054.1:n.-160+661C>A
ENST00000522056.5:c.115-9686C>A (FADS2) ENSP00000429500.1:n.115-9686C>A