Canonical Allele Identifier: CA357982737

Gene: ELOVL6

Linked Data

• dbSNP Id: rs375332200
• MyVariant Identifiers: chr4:g.111026731C>A (hg19) ; chr4:g.110105575C>A (hg38)

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