Canonical Allele Identifier: CA357982737
Gene: ELOVL6 HGNC NCBI

Linked Data

dbSNP Id: rs375332200

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110105575C>A , CM000666.2:g.110105575C>A GRCh38
NC_000004.11:g.111026731C>A , CM000666.1:g.111026731C>A GRCh37
NC_000004.10:g.111246180C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000302274.8:c.143G>T MANE Select ENSP00000304736.3:p.Arg48Leu
ENST00000302274.7:c.143G>T ENSP00000304736.3:p.Arg48Leu
ENST00000394607.7:c.143G>T ENSP00000378105.3:p.Arg48Leu
ENST00000503885.1:c.143G>T ENSP00000426086.1:p.Arg48Leu
ENST00000506461.1:n.358G>T
ENST00000506625.5:c.143G>T ENSP00000425488.1:p.Arg48Leu
ENST00000514184.5:c.143G>T ENSP00000424023.1:p.Arg48Leu
NM_001130721.1:c.143G>T NP_001124193.1:p.Arg48Leu
NM_024090.2:c.143G>T NP_076995.1:p.Arg48Leu
XM_011532233.1:c.143G>T XP_011530535.1:p.Arg48Leu
XM_011532234.1:c.143G>T XP_011530536.1:p.Arg48Leu
XM_011532235.1:c.-139G>T XP_011530537.1:n.-139G>T
XM_011532233.3:c.143G>T XP_011530535.1:p.Arg48Leu
XM_011532234.3:c.143G>T XP_011530536.1:p.Arg48Leu
NM_001130721.2:c.143G>T NP_001124193.1:p.Arg48Leu
NM_024090.3:c.143G>T MANE Select NP_076995.1:p.Arg48Leu