Canonical Allele Identifier: CA5495625

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49474056G>A , CM000672.2:g.49474056G>A	GRCh38
NC_000010.10:g.50682102G>A , CM000672.1:g.50682102G>A	GRCh37
NC_000010.9:g.50352108G>A	NCBI36
NG_009442.1:g.70046C>T , LRG_465:g.70046C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2569C>T MANE Select	NP_000115.1:p.Arg857Ter
ENST00000355832.10:c.2569C>T MANE Select	ENSP00000348089.5:p.Arg857Ter
NM_000124.3:c.2569C>T	NP_000115.1:p.Arg857Ter
NM_001346440.1:c.2569C>T	NP_001333369.1:p.Arg857Ter
NM_001346440.2:c.2569C>T	NP_001333369.1:p.Arg857Ter
ENST00000355832.9:c.2569C>T	ENSP00000348089.5:p.Arg857Ter
ENST00000623073.3:c.*865C>T	ENSP00000485650.1:n.*865C>T
ENST00000623115.3:c.679C>T	ENSP00000485321.1:p.Arg227Ter
ENST00000624341.3:c.401C>T
ENST00000681632.1:n.2647C>T
ENST00000681659.1:c.2410C>T	ENSP00000505631.1:p.Arg804Ter