Canonical Allele Identifier: CA1908749671

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470988A= , CM000672.2:g.49470988A=	GRCh38
NC_000010.10:g.50679034A= , CM000672.1:g.50679034A=	GRCh37
NC_000010.9:g.50349040A=	NCBI36
NG_009442.1:g.73114T= , LRG_465:g.73114T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3057T= MANE Select	ENSP00000348089.5:p.Ser1019=
ENST00000679552.1:n.142-99T=
ENST00000679871.1:n.203T=
ENST00000679974.1:n.120-99T=
ENST00000681632.1:n.4460T=
ENST00000681659.1:c.2898T=	ENSP00000505631.1:p.Ser966=
ENST00000355832.9:c.3057T=	ENSP00000348089.5:p.Ser1019=
ENST00000623073.3:c.*1353T=	ENSP00000485650.1:n.*1353T=
ENST00000623115.3:c.1167T=	ENSP00000485321.1:p.Ser389=
ENST00000624341.3:c.889T=
NM_000124.3:c.3057T=	NP_000115.1:p.Ser1019=
XR_945953.1:n.243-577A=
NM_001346440.1:c.3057T=	NP_001333369.1:p.Ser1019=
NM_000124.4:c.3057T= MANE Select	NP_000115.1:p.Ser1019=
NM_001346440.2:c.3057T=	NP_001333369.1:p.Ser1019=