Canonical Allele Identifier: CA209264
Gene: ELOVL5 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.53270651T>C
GRCh37 chr6:g.53135449T>C
Revel Score:
ENST00000370918 0.290
ENST00000304434 (MANE Select) 0.290
ENST00000542638 0.290
ENST00000541407 0.290
gnomAD v2:
6:53135449 T / C
gnomAD v3:
6:53270651 T / C
gnomAD v4:
chr6-53270651-T-C
Joint Max Group AF 0.00123217 (NFE)
Genomes Max Group AF 0.00086098 (NFE)
Exomes Max Group AF 0.00124459 (NFE)
JSON-LD

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=
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