Canonical Allele Identifier: CA357982576
Gene: ELOVL6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110105501A>T , CM000666.2:g.110105501A>T GRCh38
NC_000004.11:g.111026657A>T , CM000666.1:g.111026657A>T GRCh37
NC_000004.10:g.111246106A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302274.8:c.217T>A MANE Select ENSP00000304736.3:p.Phe73Ile
ENST00000302274.7:c.217T>A ENSP00000304736.3:p.Phe73Ile
ENST00000394607.7:c.217T>A ENSP00000378105.3:p.Phe73Ile
ENST00000503885.1:c.217T>A ENSP00000426086.1:p.Phe73Ile
ENST00000506461.1:n.432T>A
ENST00000506625.5:c.217T>A ENSP00000425488.1:p.Phe73Ile
ENST00000514184.5:c.217T>A ENSP00000424023.1:p.Phe73Ile
NM_001130721.1:c.217T>A NP_001124193.1:p.Phe73Ile
NM_024090.2:c.217T>A NP_076995.1:p.Phe73Ile
XM_011532233.1:c.217T>A XP_011530535.1:p.Phe73Ile
XM_011532234.1:c.217T>A XP_011530536.1:p.Phe73Ile
XM_011532235.1:c.-65T>A XP_011530537.1:n.-65T>A
XM_011532233.3:c.217T>A XP_011530535.1:p.Phe73Ile
XM_011532234.3:c.217T>A XP_011530536.1:p.Phe73Ile
NM_001130721.2:c.217T>A NP_001124193.1:p.Phe73Ile
NM_024090.3:c.217T>A MANE Select NP_076995.1:p.Phe73Ile