Canonical Allele Identifier: CA1908778546

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500673C= , CM000672.2:g.49500673C=	GRCh38
NC_000010.10:g.50708719C= , CM000672.1:g.50708719C=	GRCh37
NC_000010.9:g.50378725C=	NCBI36
NG_009442.1:g.43429G= , LRG_465:g.43429G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1550G= MANE Select	ENSP00000348089.5:p.Trp517=
ENST00000681632.1:n.1628G=
ENST00000681659.1:c.1526+5211G=	ENSP00000505631.1:n.1526+5211G=
ENST00000355832.9:c.1550G=	ENSP00000348089.5:p.Trp517=
ENST00000475116.1:n.140G=
ENST00000623073.3:c.-50G=	ENSP00000485650.1:n.-50G=
ENST00000623115.3:c.-205G=	ENSP00000485321.1:n.-205G=
ENST00000623318.1:c.-50G=	ENSP00000485423.1:n.-50G=
ENST00000623788.1:n.549G=
NM_000124.3:c.1550G=	NP_000115.1:p.Trp517=
NM_001346440.1:c.1550G=	NP_001333369.1:p.Trp517=
NM_000124.4:c.1550G= MANE Select	NP_000115.1:p.Trp517=
NM_001346440.2:c.1550G=	NP_001333369.1:p.Trp517=