Canonical Allele Identifier: CA152794

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459059T>C , CM000672.2:g.49459059T>C	GRCh38
NC_000010.10:g.50667105T>C , CM000672.1:g.50667105T>C	GRCh37
NC_000010.9:g.50337111T>C	NCBI36
NG_009442.1:g.85043A>G , LRG_465:g.85043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4238A>G MANE Select	ENSP00000348089.5:p.Gln1413Arg
ENST00000679552.1:n.2447A>G
ENST00000679871.1:n.1384A>G
ENST00000679974.1:n.1287A>G
ENST00000681632.1:n.5641A>G
ENST00000681659.1:c.4079A>G	ENSP00000505631.1:p.Gln1360Arg
ENST00000355832.9:c.4238A>G	ENSP00000348089.5:p.Gln1413Arg
ENST00000623073.3:c.*2534A>G	ENSP00000485650.1:n.*2534A>G
ENST00000623115.3:c.2348A>G	ENSP00000485321.1:p.Gln783Arg
ENST00000624341.3:c.2070A>G
NM_000124.3:c.4238A>G	NP_000115.1:p.Gln1413Arg
XR_945953.1:n.243-12506T>C
NM_001346440.1:c.4238A>G	NP_001333369.1:p.Gln1413Arg
NM_000124.4:c.4238A>G MANE Select	NP_000115.1:p.Gln1413Arg
NM_001346440.2:c.4238A>G	NP_001333369.1:p.Gln1413Arg