Canonical Allele Identifier: CA1908745509

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461469A= , CM000672.2:g.49461469A=	GRCh38
NC_000010.10:g.50669515A= , CM000672.1:g.50669515A=	GRCh37
NC_000010.9:g.50339521A=	NCBI36
NG_009442.1:g.82633T= , LRG_465:g.82633T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3866T= MANE Select	ENSP00000348089.5:p.Val1289=
ENST00000679552.1:n.937T=
ENST00000679871.1:n.1012T=
ENST00000679974.1:n.915T=
ENST00000681632.1:n.5269T=
ENST00000681659.1:c.3707T=	ENSP00000505631.1:p.Val1236=
ENST00000355832.9:c.3866T=	ENSP00000348089.5:p.Val1289=
ENST00000465653.1:n.188T=
ENST00000623073.3:c.*2162T=	ENSP00000485650.1:n.*2162T=
ENST00000623115.3:c.1976T=	ENSP00000485321.1:p.Val659=
ENST00000624341.3:c.1698T=
NM_000124.3:c.3866T=	NP_000115.1:p.Val1289=
XR_945953.1:n.243-10096A=
NM_001346440.1:c.3866T=	NP_001333369.1:p.Val1289=
NM_000124.4:c.3866T= MANE Select	NP_000115.1:p.Val1289=
NM_001346440.2:c.3866T=	NP_001333369.1:p.Val1289=