Canonical Allele Identifier: CA5495764
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49482731C>T
GRCh37 chr10:g.50690777C>T
Revel Score:
ENST00000355832 (MANE Select) 0.480
ENST00000374129 0.480
ENST00000542458 0.480
gnomAD v2:
10:50690777 C / T
gnomAD v3:
10:49482731 C / T
gnomAD v4:
chr10-49482731-C-T
Joint Max Group AF 0.00038703 (EAS)
Genomes Max Group AF 0.00006874 (EAS)
Exomes Max Group AF 0.00039606 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482731C>T , CM000672.2:g.49482731C>T GRCh38
NC_000010.10:g.50690777C>T , CM000672.1:g.50690777C>T GRCh37
NC_000010.9:g.50360783C>T NCBI36
NG_009442.1:g.61371G>A , LRG_465:g.61371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2125G>A MANE Select ENSP00000348089.5:p.Val709Ile
ENST00000681632.1:n.2203G>A
ENST00000681659.1:c.1966G>A ENSP00000505631.1:p.Val656Ile
ENST00000355832.9:c.2125G>A ENSP00000348089.5:p.Val709Ile
ENST00000623073.3:c.*517G>A ENSP00000485650.1:n.*517G>A
ENST00000623115.3:c.235G>A ENSP00000485321.1:p.Val79Ile
NM_000124.3:c.2125G>A NP_000115.1:p.Val709Ile
NM_001346440.1:c.2125G>A NP_001333369.1:p.Val709Ile
NM_000124.4:c.2125G>A MANE Select NP_000115.1:p.Val709Ile
NM_001346440.2:c.2125G>A NP_001333369.1:p.Val709Ile
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