Canonical Allele Identifier: CA1908749315

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470261C= , CM000672.2:g.49470261C=	GRCh38
NC_000010.10:g.50678307C= , CM000672.1:g.50678307C=	GRCh37
NC_000010.9:g.50348313C=	NCBI36
NG_009442.1:g.73841G= , LRG_465:g.73841G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3699G= MANE Select	ENSP00000348089.5:p.Lys1233=
ENST00000679552.1:n.770G=
ENST00000679871.1:n.845G=
ENST00000679974.1:n.748G=
ENST00000681632.1:n.5102G=
ENST00000681659.1:c.3540G=	ENSP00000505631.1:p.Lys1180=
ENST00000355832.9:c.3699G=	ENSP00000348089.5:p.Lys1233=
ENST00000465653.1:n.21G=
ENST00000623073.3:c.*1995G=	ENSP00000485650.1:n.*1995G=
ENST00000623115.3:c.1809G=	ENSP00000485321.1:p.Lys603=
ENST00000624341.3:c.1531G=
NM_000124.3:c.3699G=	NP_000115.1:p.Lys1233=
XR_945953.1:n.243-1304C=
NM_001346440.1:c.3699G=	NP_001333369.1:p.Lys1233=
NM_000124.4:c.3699G= MANE Select	NP_000115.1:p.Lys1233=
NM_001346440.2:c.3699G=	NP_001333369.1:p.Lys1233=