Canonical Allele Identifier: CA1977497387
Community Standard Title: NM_013402.7(FADS1):c.*577G=

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61801834C= , CM000673.2:g.61801834C= GRCh38
NC_000011.9:g.61569306C= , CM000673.1:g.61569306C= GRCh37
NC_000011.8:g.61325882C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_013402.7:c.*577G= (FADS1) MANE Select NP_037534.5:n.*577G=
ENST00000350997.12:c.*577G= (FADS1) MANE Select ENSP00000322229.9:n.*577G=
NM_013402.4:c.*577G= (FADS1) NP_037534.3:n.*577G=
NM_013402.6:c.*577G= (FADS1) NP_037534.5:n.*577G=
ENST00000350997.11:c.*577G= (FADS1) ENSP00000322229.9:n.*577G=
ENST00000574708.5:c.-55+8806C= (FADS2) ENSP00000458917.1:n.-55+8806C=
XM_011545022.1:c.*577G= (FADS1) XP_011543324.1:n.*577G=
XM_011545022.2:c.*577G= (FADS1) XP_011543324.1:n.*577G=