Canonical Allele Identifier: CA1908780797

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49505892C= , CM000672.2:g.49505892C=	GRCh38
NC_000010.10:g.50713938C= , CM000672.1:g.50713938C=	GRCh37
NC_000010.9:g.50383944C=	NCBI36
NG_009442.1:g.38210G= , LRG_465:g.38210G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1518G= MANE Select	NP_000115.1:p.Lys506=
ENST00000355832.10:c.1518G= MANE Select	ENSP00000348089.5:p.Lys506=
NM_000124.3:c.1518G=	NP_000115.1:p.Lys506=
NM_001346440.1:c.1518G=	NP_001333369.1:p.Lys506=
NM_001346440.2:c.1518G=	NP_001333369.1:p.Lys506=
ENST00000355832.9:c.1518G=	ENSP00000348089.5:p.Lys506=
ENST00000475116.1:n.108G=
ENST00000623073.3:c.-5269G=	ENSP00000485650.1:n.-5269G=
ENST00000623788.1:n.517G=
ENST00000679811.1:n.1601G=
ENST00000681632.1:n.1596G=
ENST00000681659.1:c.1518G=	ENSP00000505631.1:p.Lys506=