Canonical Allele Identifier: CA357982578
Gene: ELOVL6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110105503A>G , CM000666.2:g.110105503A>G GRCh38
NC_000004.11:g.111026659A>G , CM000666.1:g.111026659A>G GRCh37
NC_000004.10:g.111246108A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302274.8:c.215T>C MANE Select ENSP00000304736.3:p.Val72Ala
ENST00000302274.7:c.215T>C ENSP00000304736.3:p.Val72Ala
ENST00000394607.7:c.215T>C ENSP00000378105.3:p.Val72Ala
ENST00000503885.1:c.215T>C ENSP00000426086.1:p.Val72Ala
ENST00000506461.1:n.430T>C
ENST00000506625.5:c.215T>C ENSP00000425488.1:p.Val72Ala
ENST00000514184.5:c.215T>C ENSP00000424023.1:p.Val72Ala
NM_001130721.1:c.215T>C NP_001124193.1:p.Val72Ala
NM_024090.2:c.215T>C NP_076995.1:p.Val72Ala
XM_011532233.1:c.215T>C XP_011530535.1:p.Val72Ala
XM_011532234.1:c.215T>C XP_011530536.1:p.Val72Ala
XM_011532235.1:c.-67T>C XP_011530537.1:n.-67T>C
XM_011532233.3:c.215T>C XP_011530535.1:p.Val72Ala
XM_011532234.3:c.215T>C XP_011530536.1:p.Val72Ala
NM_001130721.2:c.215T>C NP_001124193.1:p.Val72Ala
NM_024090.3:c.215T>C MANE Select NP_076995.1:p.Val72Ala