Canonical Allele Identifier: CA5495729

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49478436C>A , CM000672.2:g.49478436C>A	GRCh38
NC_000010.10:g.50686482C>A , CM000672.1:g.50686482C>A	GRCh37
NC_000010.9:g.50356488C>A	NCBI36
NG_009442.1:g.65666G>T , LRG_465:g.65666G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2204G>T MANE Select	NP_000115.1:p.Arg735Leu
ENST00000355832.10:c.2204G>T MANE Select	ENSP00000348089.5:p.Arg735Leu
NM_000124.3:c.2204G>T	NP_000115.1:p.Arg735Leu
NM_001346440.1:c.2204G>T	NP_001333369.1:p.Arg735Leu
NM_001346440.2:c.2204G>T	NP_001333369.1:p.Arg735Leu
ENST00000355832.9:c.2204G>T	ENSP00000348089.5:p.Arg735Leu
ENST00000623073.3:c.*596G>T	ENSP00000485650.1:n.*596G>T
ENST00000623115.3:c.314G>T	ENSP00000485321.1:p.Arg105Leu
ENST00000681632.1:n.2282G>T
ENST00000681659.1:c.2045G>T	ENSP00000505631.1:p.Arg682Leu