Canonical Allele Identifier: CA5495457
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49471056T>C
GRCh37 chr10:g.50679102T>C
Revel Score:
ENST00000355832 (MANE Select) 0.760
ENST00000374129 0.760
ENST00000542458 0.760
gnomAD v2:
10:50679102 T / C
gnomAD v3:
10:49471056 T / C
gnomAD v4:
chr10-49471056-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471056T>C , CM000672.2:g.49471056T>C GRCh38
NC_000010.10:g.50679102T>C , CM000672.1:g.50679102T>C GRCh37
NC_000010.9:g.50349108T>C NCBI36
NG_009442.1:g.73046A>G , LRG_465:g.73046A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2989A>G MANE Select ENSP00000348089.5:p.Lys997Glu
ENST00000679552.1:n.142-167A>G
ENST00000679871.1:n.135A>G
ENST00000679974.1:n.120-167A>G
ENST00000681632.1:n.4392A>G
ENST00000681659.1:c.2830A>G ENSP00000505631.1:p.Lys944Glu
ENST00000355832.9:c.2989A>G ENSP00000348089.5:p.Lys997Glu
ENST00000623073.3:c.*1285A>G ENSP00000485650.1:n.*1285A>G
ENST00000623115.3:c.1099A>G ENSP00000485321.1:p.Lys367Glu
ENST00000624341.3:c.821A>G
NM_000124.3:c.2989A>G NP_000115.1:p.Lys997Glu
XR_945953.1:n.243-509T>C
NM_001346440.1:c.2989A>G NP_001333369.1:p.Lys997Glu
NM_000124.4:c.2989A>G MANE Select NP_000115.1:p.Lys997Glu
NM_001346440.2:c.2989A>G NP_001333369.1:p.Lys997Glu
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