Canonical Allele Identifier: CA1484848565
Gene: ELOVL6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110105502G= , CM000666.2:g.110105502G= GRCh38
NC_000004.11:g.111026658G= , CM000666.1:g.111026658G= GRCh37
NC_000004.10:g.111246107G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302274.8:c.216C= MANE Select ENSP00000304736.3:p.Val72=
ENST00000302274.7:c.216C= ENSP00000304736.3:p.Val72=
ENST00000394607.7:c.216C= ENSP00000378105.3:p.Val72=
ENST00000503885.1:c.216C= ENSP00000426086.1:p.Val72=
ENST00000506461.1:n.431C=
ENST00000506625.5:c.216C= ENSP00000425488.1:p.Val72=
ENST00000514184.5:c.216C= ENSP00000424023.1:p.Val72=
NM_001130721.1:c.216C= NP_001124193.1:p.Val72=
NM_024090.2:c.216C= NP_076995.1:p.Val72=
XM_011532233.1:c.216C= XP_011530535.1:p.Val72=
XM_011532234.1:c.216C= XP_011530536.1:p.Val72=
XM_011532235.1:c.-66C= XP_011530537.1:n.-66C=
XM_011532233.3:c.216C= XP_011530535.1:p.Val72=
XM_011532234.3:c.216C= XP_011530536.1:p.Val72=
NM_001130721.2:c.216C= NP_001124193.1:p.Val72=
NM_024090.3:c.216C= MANE Select NP_076995.1:p.Val72=