Canonical Allele Identifier: CA5495649
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49474228A>G
GRCh37 chr10:g.50682274A>G
Revel Score:
ENST00000539110 0.034
gnomAD v2:
10:50682274 A / G
gnomAD v3:
10:49474228 A / G
gnomAD v4:
chr10-49474228-A-G
Joint Max Group AF 0.00134678 (EAS)
Genomes Max Group AF 0.00038018 (EAS)
Exomes Max Group AF 0.00140822 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49474228A>G , CM000672.2:g.49474228A>G GRCh38
NC_000010.10:g.50682274A>G , CM000672.1:g.50682274A>G GRCh37
NC_000010.9:g.50352280A>G NCBI36
NG_009442.1:g.69874T>C , LRG_465:g.69874T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2397T>C MANE Select ENSP00000348089.5:p.Leu799=
ENST00000681632.1:n.2475T>C
ENST00000681659.1:c.2238T>C ENSP00000505631.1:p.Leu746=
ENST00000355832.9:c.2397T>C ENSP00000348089.5:p.Leu799=
ENST00000623073.3:c.*693T>C ENSP00000485650.1:n.*693T>C
ENST00000623115.3:c.507T>C ENSP00000485321.1:p.Leu169=
ENST00000624341.3:c.229T>C
NM_000124.3:c.2397T>C NP_000115.1:p.Leu799=
NM_001346440.1:c.2397T>C NP_001333369.1:p.Leu799=
NM_000124.4:c.2397T>C MANE Select NP_000115.1:p.Leu799=
NM_001346440.2:c.2397T>C NP_001333369.1:p.Leu799=
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