Canonical Allele Identifier: CA5495117

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49458867T>C , CM000672.2:g.49458867T>C	GRCh38
NC_000010.10:g.50666913T>C , CM000672.1:g.50666913T>C	GRCh37
NC_000010.9:g.50336919T>C	NCBI36
NG_009442.1:g.85235A>G , LRG_465:g.85235A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.4430A>G MANE Select	NP_000115.1:p.His1477Arg
ENST00000355832.10:c.4430A>G MANE Select	ENSP00000348089.5:p.His1477Arg
NM_000124.3:c.4430A>G	NP_000115.1:p.His1477Arg
NM_001346440.1:c.4430A>G	NP_001333369.1:p.His1477Arg
NM_001346440.2:c.4430A>G	NP_001333369.1:p.His1477Arg
ENST00000355832.9:c.4430A>G	ENSP00000348089.5:p.His1477Arg
ENST00000623073.3:c.*2726A>G	ENSP00000485650.1:n.*2726A>G
ENST00000623115.3:c.2540A>G	ENSP00000485321.1:p.His847Arg
ENST00000624341.3:c.2262A>G
ENST00000679552.1:n.2639A>G
ENST00000679871.1:n.1576A>G
ENST00000679974.1:n.1479A>G
ENST00000681632.1:n.5833A>G
ENST00000681659.1:c.4271A>G	ENSP00000505631.1:p.His1424Arg
XR_945953.1:n.243-12698T>C