Canonical Allele Identifier: CA1908749359

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470351C= , CM000672.2:g.49470351C=	GRCh38
NC_000010.10:g.50678397C= , CM000672.1:g.50678397C=	GRCh37
NC_000010.9:g.50348403C=	NCBI36
NG_009442.1:g.73751G= , LRG_465:g.73751G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3609G= MANE Select	ENSP00000348089.5:p.Lys1203=
ENST00000679552.1:n.680G=
ENST00000679871.1:n.755G=
ENST00000679974.1:n.658G=
ENST00000681632.1:n.5012G=
ENST00000681659.1:c.3450G=	ENSP00000505631.1:p.Lys1150=
ENST00000355832.9:c.3609G=	ENSP00000348089.5:p.Lys1203=
ENST00000623073.3:c.*1905G=	ENSP00000485650.1:n.*1905G=
ENST00000623115.3:c.1719G=	ENSP00000485321.1:p.Lys573=
ENST00000624341.3:c.1441G=
NM_000124.3:c.3609G=	NP_000115.1:p.Lys1203=
XR_945953.1:n.243-1214C=
NM_001346440.1:c.3609G=	NP_001333369.1:p.Lys1203=
NM_000124.4:c.3609G= MANE Select	NP_000115.1:p.Lys1203=
NM_001346440.2:c.3609G=	NP_001333369.1:p.Lys1203=