Canonical Allele Identifier: CA1908745492

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461440G= , CM000672.2:g.49461440G=	GRCh38
NC_000010.10:g.50669486G= , CM000672.1:g.50669486G=	GRCh37
NC_000010.9:g.50339492G=	NCBI36
NG_009442.1:g.82662C= , LRG_465:g.82662C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3895C= MANE Select	ENSP00000348089.5:p.Leu1299=
ENST00000679552.1:n.966C=
ENST00000679871.1:n.1041C=
ENST00000679974.1:n.944C=
ENST00000681632.1:n.5298C=
ENST00000681659.1:c.3736C=	ENSP00000505631.1:p.Leu1246=
ENST00000355832.9:c.3895C=	ENSP00000348089.5:p.Leu1299=
ENST00000465653.1:n.217C=
ENST00000623073.3:c.*2191C=	ENSP00000485650.1:n.*2191C=
ENST00000623115.3:c.2005C=	ENSP00000485321.1:p.Leu669=
ENST00000624341.3:c.1727C=
NM_000124.3:c.3895C=	NP_000115.1:p.Leu1299=
XR_945953.1:n.243-10125G=
NM_001346440.1:c.3895C=	NP_001333369.1:p.Leu1299=
NM_000124.4:c.3895C= MANE Select	NP_000115.1:p.Leu1299=
NM_001346440.2:c.3895C=	NP_001333369.1:p.Leu1299=