Canonical Allele Identifier: CA376723766
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49478437G>C
GRCh37 chr10:g.50686483G>C
Revel Score:
ENST00000355832 (MANE Select) 0.922
ENST00000374129 0.922
ENST00000542458 0.922
ClinVar RCV:
RCV001892945
ClinVar Variation:
1391191
dbSNP:
121917901
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49478437G>C , CM000672.2:g.49478437G>C GRCh38
NC_000010.10:g.50686483G>C , CM000672.1:g.50686483G>C GRCh37
NC_000010.9:g.50356489G>C NCBI36
NG_009442.1:g.65665C>G , LRG_465:g.65665C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2203C>G MANE Select ENSP00000348089.5:p.Arg735Gly
ENST00000681632.1:n.2281C>G
ENST00000681659.1:c.2044C>G ENSP00000505631.1:p.Arg682Gly
ENST00000355832.9:c.2203C>G ENSP00000348089.5:p.Arg735Gly
ENST00000623073.3:c.*595C>G ENSP00000485650.1:n.*595C>G
ENST00000623115.3:c.313C>G ENSP00000485321.1:p.Arg105Gly
NM_000124.3:c.2203C>G NP_000115.1:p.Arg735Gly
NM_001346440.1:c.2203C>G NP_001333369.1:p.Arg735Gly
NM_000124.4:c.2203C>G MANE Select NP_000115.1:p.Arg735Gly
NM_001346440.2:c.2203C>G NP_001333369.1:p.Arg735Gly
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