Canonical Allele Identifier: CA209264

Gene: ELOVL5

Linked Data

• ClinVar Variation Id: 210935
• ClinVar RCV Id: RCV000194832 ; RCV000898740 ; RCV001270037
• dbSNP Id: rs41273880
• ExAC: 6:53135449 T / C
• gnomAD v2: 6-53135449-T-C
• gnomAD v3: 6-53270651-T-C
• gnomAD v4: 6-53270651-T-C
• MyVariant Identifiers: chr6:g.53135449T>C (hg19) ; chr6:g.53270651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53270651T>C , CM000668.2:g.53270651T>C	GRCh38
NC_000006.11:g.53135449T>C , CM000668.1:g.53135449T>C	GRCh37
NC_000006.10:g.53243408T>C	NCBI36
NG_034263.1:g.83529A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304434.11:c.698A>G MANE Select	ENSP00000306640.6:p.Tyr233Cys
ENST00000304434.10:c.698A>G	ENSP00000306640.6:p.Tyr233Cys
ENST00000370918.8:c.779A>G	ENSP00000359956.5:p.Tyr260Cys
ENST00000542638.5:c.573A>G	ENSP00000440728.2:p.Val191=
NM_001242828.1:c.779A>G	NP_001229757.1:p.Tyr260Cys
NM_001242830.1:c.573A>G	NP_001229759.1:p.Val191=
NM_001301856.1:c.698A>G	NP_001288785.1:p.Tyr233Cys
NM_021814.4:c.698A>G	NP_068586.1:p.Tyr233Cys
NM_021814.5:c.698A>G MANE Select	NP_068586.1:p.Tyr233Cys
NM_001301856.2:c.698A>G	NP_001288785.1:p.Tyr233Cys
NM_001242828.2:c.779A>G	NP_001229757.1:p.Tyr260Cys
NM_001242830.2:c.573A>G	NP_001229759.1:p.Val191=