Canonical Allele Identifier: CA5495580
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49473489C>T
GRCh37 chr10:g.50681535C>T
gnomAD v2:
10:50681535 C / T
gnomAD v3:
10:49473489 C / T
gnomAD v4:
chr10-49473489-C-T
Joint Max Group AF 0.00004386 (AFR)
Genomes Max Group AF 0.00007895 (AFR)
Exomes Max Group AF 0.00002007 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49473489C>T , CM000672.2:g.49473489C>T GRCh38
NC_000010.10:g.50681535C>T , CM000672.1:g.50681535C>T GRCh37
NC_000010.9:g.50351541C>T NCBI36
NG_009442.1:g.70613G>A , LRG_465:g.70613G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2697G>A MANE Select ENSP00000348089.5:p.Thr899=
ENST00000681632.1:n.3214G>A
ENST00000681659.1:c.2538G>A ENSP00000505631.1:p.Thr846=
ENST00000355832.9:c.2697G>A ENSP00000348089.5:p.Thr899=
ENST00000623073.3:c.*993G>A ENSP00000485650.1:n.*993G>A
ENST00000623115.3:c.807G>A ENSP00000485321.1:p.Thr269=
ENST00000624341.3:c.529G>A
NM_000124.3:c.2697G>A NP_000115.1:p.Thr899=
NM_001346440.1:c.2697G>A NP_001333369.1:p.Thr899=
NM_000124.4:c.2697G>A MANE Select NP_000115.1:p.Thr899=
NM_001346440.2:c.2697G>A NP_001333369.1:p.Thr899=
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