Canonical Allele Identifier: CA376721499

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49474121C>T , CM000672.2:g.49474121C>T	GRCh38
NC_000010.10:g.50682167C>T , CM000672.1:g.50682167C>T	GRCh37
NC_000010.9:g.50352173C>T	NCBI36
NG_009442.1:g.69981G>A , LRG_465:g.69981G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2504G>A MANE Select	NP_000115.1:p.Trp835Ter
ENST00000355832.10:c.2504G>A MANE Select	ENSP00000348089.5:p.Trp835Ter
NM_000124.3:c.2504G>A	NP_000115.1:p.Trp835Ter
NM_001346440.1:c.2504G>A	NP_001333369.1:p.Trp835Ter
NM_001346440.2:c.2504G>A	NP_001333369.1:p.Trp835Ter
ENST00000355832.9:c.2504G>A	ENSP00000348089.5:p.Trp835Ter
ENST00000623073.3:c.*800G>A	ENSP00000485650.1:n.*800G>A
ENST00000623115.3:c.614G>A	ENSP00000485321.1:p.Trp205Ter
ENST00000624341.3:c.336G>A
ENST00000681632.1:n.2582G>A
ENST00000681659.1:c.2345G>A	ENSP00000505631.1:p.Trp782Ter