Canonical Allele Identifier: CA364474318

Gene: ELOVL5

Linked Data

• MyVariant Identifiers: chr6:g.53135458C>G (hg19) ; chr6:g.53270660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53270660C>G , CM000668.2:g.53270660C>G	GRCh38
NC_000006.11:g.53135458C>G , CM000668.1:g.53135458C>G	GRCh37
NC_000006.10:g.53243417C>G	NCBI36
NG_034263.1:g.83520G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304434.11:c.689G>C MANE Select	ENSP00000306640.6:p.Gly230Ala
ENST00000304434.10:c.689G>C	ENSP00000306640.6:p.Gly230Ala
ENST00000370918.8:c.770G>C	ENSP00000359956.5:p.Gly257Ala
ENST00000542638.5:c.564G>C	ENSP00000440728.2:p.Trp188Cys
NM_001242828.1:c.770G>C	NP_001229757.1:p.Gly257Ala
NM_001242830.1:c.564G>C	NP_001229759.1:p.Trp188Cys
NM_001301856.1:c.689G>C	NP_001288785.1:p.Gly230Ala
NM_021814.4:c.689G>C	NP_068586.1:p.Gly230Ala
NM_021814.5:c.689G>C MANE Select	NP_068586.1:p.Gly230Ala
NM_001301856.2:c.689G>C	NP_001288785.1:p.Gly230Ala
NM_001242828.2:c.770G>C	NP_001229757.1:p.Gly257Ala
NM_001242830.2:c.564G>C	NP_001229759.1:p.Trp188Cys