Canonical Allele Identifier: CA2671759175
Gene: ELOVL6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110105487A>G , CM000666.2:g.110105487A>G GRCh38
NC_000004.11:g.111026643A>G , CM000666.1:g.111026643A>G GRCh37
NC_000004.10:g.111246092A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302274.8:c.221+10T>C MANE Select ENSP00000304736.3:n.221+10T>C
ENST00000302274.7:c.221+10T>C ENSP00000304736.3:n.221+10T>C
ENST00000394607.7:c.221+10T>C ENSP00000378105.3:n.221+10T>C
ENST00000503885.1:c.221+10T>C ENSP00000426086.1:n.221+10T>C
ENST00000506461.1:n.436+10T>C
ENST00000506625.5:c.221+10T>C ENSP00000425488.1:n.221+10T>C
ENST00000514184.5:c.221+10T>C ENSP00000424023.1:n.221+10T>C
NM_001130721.1:c.221+10T>C NP_001124193.1:n.221+10T>C
NM_024090.2:c.221+10T>C NP_076995.1:n.221+10T>C
XM_011532233.1:c.221+10T>C XP_011530535.1:n.221+10T>C
XM_011532234.1:c.221+10T>C XP_011530536.1:n.221+10T>C
XM_011532235.1:c.-61+10T>C XP_011530537.1:n.-61+10T>C
XM_011532233.3:c.221+10T>C XP_011530535.1:n.221+10T>C
XM_011532234.3:c.221+10T>C XP_011530536.1:n.221+10T>C
NM_001130721.2:c.221+10T>C NP_001124193.1:n.221+10T>C
NM_024090.3:c.221+10T>C MANE Select NP_076995.1:n.221+10T>C