Canonical Allele Identifier: CA1908749713

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471085A= , CM000672.2:g.49471085A=	GRCh38
NC_000010.10:g.50679131A= , CM000672.1:g.50679131A=	GRCh37
NC_000010.9:g.50349137A=	NCBI36
NG_009442.1:g.73017T= , LRG_465:g.73017T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2960T= MANE Select	ENSP00000348089.5:p.Leu987=
ENST00000679552.1:n.142-196T=
ENST00000679871.1:n.106T=
ENST00000679974.1:n.120-196T=
ENST00000681632.1:n.4363T=
ENST00000681659.1:c.2801T=	ENSP00000505631.1:p.Leu934=
ENST00000355832.9:c.2960T=	ENSP00000348089.5:p.Leu987=
ENST00000623073.3:c.*1256T=	ENSP00000485650.1:n.*1256T=
ENST00000623115.3:c.1070T=	ENSP00000485321.1:p.Leu357=
ENST00000624341.3:c.792T=
NM_000124.3:c.2960T=	NP_000115.1:p.Leu987=
XR_945953.1:n.243-480A=
NM_001346440.1:c.2960T=	NP_001333369.1:p.Leu987=
NM_000124.4:c.2960T= MANE Select	NP_000115.1:p.Leu987=
NM_001346440.2:c.2960T=	NP_001333369.1:p.Leu987=