Canonical Allele Identifier: CA440748051

Gene: ELOVL6

Linked Data

• MyVariant Identifiers: chr4:g.111026757C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105601C>G , CM000666.2:g.110105601C>G	GRCh38
NC_000004.11:g.111026757C>G , CM000666.1:g.111026757C>G	GRCh37
NC_000004.10:g.111246206C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000302274.8:c.117G>C MANE Select	ENSP00000304736.3:p.Leu39=
ENST00000302274.7:c.117G>C	ENSP00000304736.3:p.Leu39=
ENST00000394607.7:c.117G>C	ENSP00000378105.3:p.Leu39=
ENST00000503885.1:c.117G>C	ENSP00000426086.1:p.Leu39=
ENST00000506461.1:n.332G>C
ENST00000506625.5:c.117G>C	ENSP00000425488.1:p.Leu39=
ENST00000514184.5:c.117G>C	ENSP00000424023.1:p.Leu39=
NM_001130721.1:c.117G>C	NP_001124193.1:p.Leu39=
NM_024090.2:c.117G>C	NP_076995.1:p.Leu39=
XM_011532233.1:c.117G>C	XP_011530535.1:p.Leu39=
XM_011532234.1:c.117G>C	XP_011530536.1:p.Leu39=
XM_011532235.1:c.-165G>C	XP_011530537.1:n.-165G>C
XM_011532233.3:c.117G>C	XP_011530535.1:p.Leu39=
XM_011532234.3:c.117G>C	XP_011530536.1:p.Leu39=
NM_001130721.2:c.117G>C	NP_001124193.1:p.Leu39=
NM_024090.3:c.117G>C MANE Select	NP_076995.1:p.Leu39=