Canonical Allele Identifier: CA357982633

Gene: ELOVL6

Linked Data

• MyVariant Identifiers: chr4:g.111026685T>G (hg19) ; chr4:g.110105529T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105529T>G , CM000666.2:g.110105529T>G	GRCh38
NC_000004.11:g.111026685T>G , CM000666.1:g.111026685T>G	GRCh37
NC_000004.10:g.111246134T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302274.8:c.189A>C MANE Select	ENSP00000304736.3:p.Leu63Phe
ENST00000302274.7:c.189A>C	ENSP00000304736.3:p.Leu63Phe
ENST00000394607.7:c.189A>C	ENSP00000378105.3:p.Leu63Phe
ENST00000503885.1:c.189A>C	ENSP00000426086.1:p.Leu63Phe
ENST00000506461.1:n.404A>C
ENST00000506625.5:c.189A>C	ENSP00000425488.1:p.Leu63Phe
ENST00000514184.5:c.189A>C	ENSP00000424023.1:p.Leu63Phe
NM_001130721.1:c.189A>C	NP_001124193.1:p.Leu63Phe
NM_024090.2:c.189A>C	NP_076995.1:p.Leu63Phe
XM_011532233.1:c.189A>C	XP_011530535.1:p.Leu63Phe
XM_011532234.1:c.189A>C	XP_011530536.1:p.Leu63Phe
XM_011532235.1:c.-93A>C	XP_011530537.1:n.-93A>C
XM_011532233.3:c.189A>C	XP_011530535.1:p.Leu63Phe
XM_011532234.3:c.189A>C	XP_011530536.1:p.Leu63Phe
NM_001130721.2:c.189A>C	NP_001124193.1:p.Leu63Phe
NM_024090.3:c.189A>C MANE Select	NP_076995.1:p.Leu63Phe