Canonical Allele Identifier: CA1908745490

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461437A= , CM000672.2:g.49461437A=	GRCh38
NC_000010.10:g.50669483A= , CM000672.1:g.50669483A=	GRCh37
NC_000010.9:g.50339489A=	NCBI36
NG_009442.1:g.82665T= , LRG_465:g.82665T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3898T= MANE Select	ENSP00000348089.5:p.Ser1300=
ENST00000679552.1:n.969T=
ENST00000679871.1:n.1044T=
ENST00000679974.1:n.947T=
ENST00000681632.1:n.5301T=
ENST00000681659.1:c.3739T=	ENSP00000505631.1:p.Ser1247=
ENST00000355832.9:c.3898T=	ENSP00000348089.5:p.Ser1300=
ENST00000465653.1:n.220T=
ENST00000623073.3:c.*2194T=	ENSP00000485650.1:n.*2194T=
ENST00000623115.3:c.2008T=	ENSP00000485321.1:p.Ser670=
ENST00000624341.3:c.1730T=
NM_000124.3:c.3898T=	NP_000115.1:p.Ser1300=
XR_945953.1:n.243-10128A=
NM_001346440.1:c.3898T=	NP_001333369.1:p.Ser1300=
NM_000124.4:c.3898T= MANE Select	NP_000115.1:p.Ser1300=
NM_001346440.2:c.3898T=	NP_001333369.1:p.Ser1300=