Canonical Allele Identifier: CA5495546
Gene: ERCC6 HGNC NCBI
COSMIC:
COSM6271264 (not active)
MyVariant.info:
GRCh38 chr10:g.49472997G>A
GRCh37 chr10:g.50681043G>A
Revel Score:
ENST00000355832 (MANE Select) 0.781
ENST00000374129 0.781
ENST00000542458 0.781
gnomAD v2:
10:50681043 G / A
gnomAD v3:
10:49472997 G / A
gnomAD v4:
chr10-49472997-G-A
Joint Max Group AF 0.00085547 (NFE)
Genomes Max Group AF 0.00066391 (NFE)
Exomes Max Group AF 0.00085742 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49472997G>A , CM000672.2:g.49472997G>A GRCh38
NC_000010.10:g.50681043G>A , CM000672.1:g.50681043G>A GRCh37
NC_000010.9:g.50351049G>A NCBI36
NG_009442.1:g.71105C>T , LRG_465:g.71105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2741C>T MANE Select ENSP00000348089.5:p.Thr914Met
ENST00000681632.1:n.3706C>T
ENST00000681659.1:c.2582C>T ENSP00000505631.1:p.Thr861Met
ENST00000355832.9:c.2741C>T ENSP00000348089.5:p.Thr914Met
ENST00000623073.3:c.*1037C>T ENSP00000485650.1:n.*1037C>T
ENST00000623115.3:c.851C>T ENSP00000485321.1:p.Thr284Met
ENST00000624341.3:c.573C>T
NM_000124.3:c.2741C>T NP_000115.1:p.Thr914Met
NM_001346440.1:c.2741C>T NP_001333369.1:p.Thr914Met
NM_000124.4:c.2741C>T MANE Select NP_000115.1:p.Thr914Met
NM_001346440.2:c.2741C>T NP_001333369.1:p.Thr914Met
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