Canonical Allele Identifier: CA5495153

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459081C>T , CM000672.2:g.49459081C>T	GRCh38
NC_000010.10:g.50667127C>T , CM000672.1:g.50667127C>T	GRCh37
NC_000010.9:g.50337133C>T	NCBI36
NG_009442.1:g.85021G>A , LRG_465:g.85021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.4216G>A MANE Select	ENSP00000348089.5:p.Glu1406Lys
ENST00000679552.1:n.2425G>A
ENST00000679871.1:n.1362G>A
ENST00000679974.1:n.1265G>A
ENST00000681632.1:n.5619G>A
ENST00000681659.1:c.4057G>A	ENSP00000505631.1:p.Glu1353Lys
ENST00000355832.9:c.4216G>A	ENSP00000348089.5:p.Glu1406Lys
ENST00000623073.3:c.*2512G>A	ENSP00000485650.1:n.*2512G>A
ENST00000623115.3:c.2326G>A	ENSP00000485321.1:p.Glu776Lys
ENST00000624341.3:c.2048G>A
NM_000124.3:c.4216G>A	NP_000115.1:p.Glu1406Lys
XR_945953.1:n.243-12484C>T
NM_001346440.1:c.4216G>A	NP_001333369.1:p.Glu1406Lys
NM_000124.4:c.4216G>A MANE Select	NP_000115.1:p.Glu1406Lys
NM_001346440.2:c.4216G>A	NP_001333369.1:p.Glu1406Lys