Canonical Allele Identifier: CA5495122
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49458904C>T
GRCh37 chr10:g.50666950C>T
Revel Score:
ENST00000355832 (MANE Select) 0.329
ENST00000374129 0.329
ENST00000542458 0.329
gnomAD v2:
10:50666950 C / T
gnomAD v3:
10:49458904 C / T
gnomAD v4:
chr10-49458904-C-T
Joint Max Group AF 0.0001662 (AMR)
Genomes Max Group AF 0.00005279 (AMR)
Exomes Max Group AF 0.00017148 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49458904C>T , CM000672.2:g.49458904C>T GRCh38
NC_000010.10:g.50666950C>T , CM000672.1:g.50666950C>T GRCh37
NC_000010.9:g.50336956C>T NCBI36
NG_009442.1:g.85198G>A , LRG_465:g.85198G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.4393G>A MANE Select ENSP00000348089.5:p.Val1465Ile
ENST00000679552.1:n.2602G>A
ENST00000679871.1:n.1539G>A
ENST00000679974.1:n.1442G>A
ENST00000681632.1:n.5796G>A
ENST00000681659.1:c.4234G>A ENSP00000505631.1:p.Val1412Ile
ENST00000355832.9:c.4393G>A ENSP00000348089.5:p.Val1465Ile
ENST00000623073.3:c.*2689G>A ENSP00000485650.1:n.*2689G>A
ENST00000623115.3:c.2503G>A ENSP00000485321.1:p.Val835Ile
ENST00000624341.3:c.2225G>A
NM_000124.3:c.4393G>A NP_000115.1:p.Val1465Ile
XR_945953.1:n.243-12661C>T
NM_001346440.1:c.4393G>A NP_001333369.1:p.Val1465Ile
NM_000124.4:c.4393G>A MANE Select NP_000115.1:p.Val1465Ile
NM_001346440.2:c.4393G>A NP_001333369.1:p.Val1465Ile
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