Canonical Allele Identifier: CA357982796
Gene: ELOVL6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110105602A>C , CM000666.2:g.110105602A>C GRCh38
NC_000004.11:g.111026758A>C , CM000666.1:g.111026758A>C GRCh37
NC_000004.10:g.111246207A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302274.8:c.116T>G MANE Select ENSP00000304736.3:p.Leu39Arg
ENST00000302274.7:c.116T>G ENSP00000304736.3:p.Leu39Arg
ENST00000394607.7:c.116T>G ENSP00000378105.3:p.Leu39Arg
ENST00000503885.1:c.116T>G ENSP00000426086.1:p.Leu39Arg
ENST00000506461.1:n.331T>G
ENST00000506625.5:c.116T>G ENSP00000425488.1:p.Leu39Arg
ENST00000514184.5:c.116T>G ENSP00000424023.1:p.Leu39Arg
NM_001130721.1:c.116T>G NP_001124193.1:p.Leu39Arg
NM_024090.2:c.116T>G NP_076995.1:p.Leu39Arg
XM_011532233.1:c.116T>G XP_011530535.1:p.Leu39Arg
XM_011532234.1:c.116T>G XP_011530536.1:p.Leu39Arg
XM_011532235.1:c.-166T>G XP_011530537.1:n.-166T>G
XM_011532233.3:c.116T>G XP_011530535.1:p.Leu39Arg
XM_011532234.3:c.116T>G XP_011530536.1:p.Leu39Arg
NM_001130721.2:c.116T>G NP_001124193.1:p.Leu39Arg
NM_024090.3:c.116T>G MANE Select NP_076995.1:p.Leu39Arg