Canonical Allele Identifier: CA357982743

Gene: ELOVL6

Linked Data

• COSMIC: COSM5729939
• MyVariant Identifiers: chr4:g.111026734C>T (hg19) ; chr4:g.110105578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105578C>T , CM000666.2:g.110105578C>T	GRCh38
NC_000004.11:g.111026734C>T , CM000666.1:g.111026734C>T	GRCh37
NC_000004.10:g.111246183C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302274.8:c.140G>A MANE Select	ENSP00000304736.3:p.Gly47Asp
ENST00000302274.7:c.140G>A	ENSP00000304736.3:p.Gly47Asp
ENST00000394607.7:c.140G>A	ENSP00000378105.3:p.Gly47Asp
ENST00000503885.1:c.140G>A	ENSP00000426086.1:p.Gly47Asp
ENST00000506461.1:n.355G>A
ENST00000506625.5:c.140G>A	ENSP00000425488.1:p.Gly47Asp
ENST00000514184.5:c.140G>A	ENSP00000424023.1:p.Gly47Asp
NM_001130721.1:c.140G>A	NP_001124193.1:p.Gly47Asp
NM_024090.2:c.140G>A	NP_076995.1:p.Gly47Asp
XM_011532233.1:c.140G>A	XP_011530535.1:p.Gly47Asp
XM_011532234.1:c.140G>A	XP_011530536.1:p.Gly47Asp
XM_011532235.1:c.-142G>A	XP_011530537.1:n.-142G>A
XM_011532233.3:c.140G>A	XP_011530535.1:p.Gly47Asp
XM_011532234.3:c.140G>A	XP_011530536.1:p.Gly47Asp
NM_001130721.2:c.140G>A	NP_001124193.1:p.Gly47Asp
NM_024090.3:c.140G>A MANE Select	NP_076995.1:p.Gly47Asp