Canonical Allele Identifier: CA1908778549

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500680C= , CM000672.2:g.49500680C=	GRCh38
NC_000010.10:g.50708726C= , CM000672.1:g.50708726C=	GRCh37
NC_000010.9:g.50378732C=	NCBI36
NG_009442.1:g.43422G= , LRG_465:g.43422G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1543G= MANE Select	ENSP00000348089.5:p.Val515=
ENST00000681632.1:n.1621G=
ENST00000681659.1:c.1526+5204G=	ENSP00000505631.1:n.1526+5204G=
ENST00000355832.9:c.1543G=	ENSP00000348089.5:p.Val515=
ENST00000475116.1:n.133G=
ENST00000623073.3:c.-57G=	ENSP00000485650.1:n.-57G=
ENST00000623115.3:c.-212G=	ENSP00000485321.1:n.-212G=
ENST00000623318.1:c.-57G=	ENSP00000485423.1:n.-57G=
ENST00000623788.1:n.542G=
NM_000124.3:c.1543G=	NP_000115.1:p.Val515=
NM_001346440.1:c.1543G=	NP_001333369.1:p.Val515=
NM_000124.4:c.1543G= MANE Select	NP_000115.1:p.Val515=
NM_001346440.2:c.1543G=	NP_001333369.1:p.Val515=