Canonical Allele Identifier: CA222915422

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61807686A>T , CM000673.2:g.61807686A>T GRCh38
NC_000011.9:g.61575158A>T , CM000673.1:g.61575158A>T GRCh37
NC_000011.8:g.61331734A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000350997.12:c.916-962T>A (FADS1) MANE Select ENSP00000322229.9:n.916-962T>A
ENST00000350997.11:c.916-962T>A (FADS1) ENSP00000322229.9:n.916-962T>A
ENST00000433932.5:c.493-962T>A (FADS1) ENSP00000405087.1:n.493-962T>A
ENST00000496123.6:n.263-2937T>A (FADS1)
ENST00000539999.1:c.103-962T>A (FADS1) ENSP00000443587.1:n.103-962T>A
ENST00000542506.5:c.493-962T>A (FADS1) ENSP00000441403.1:n.493-962T>A
ENST00000574708.5:c.-55+14658A>T (FADS2) ENSP00000458917.1:n.-55+14658A>T
NM_013402.4:c.916-962T>A (FADS1) NP_037534.3:n.916-962T>A
XM_011545022.1:c.703-962T>A (FADS1) XP_011543324.1:n.703-962T>A
NM_013402.6:c.916-962T>A (FADS1) NP_037534.5:n.916-962T>A
XM_011545022.2:c.703-962T>A (FADS1) XP_011543324.1:n.703-962T>A
NM_013402.7:c.916-962T>A (FADS1) MANE Select NP_037534.5:n.916-962T>A