Canonical Allele Identifier: CA1908749614

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470886G= , CM000672.2:g.49470886G=	GRCh38
NC_000010.10:g.50678932G= , CM000672.1:g.50678932G=	GRCh37
NC_000010.9:g.50348938G=	NCBI36
NG_009442.1:g.73216C= , LRG_465:g.73216C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3074C= MANE Select	ENSP00000348089.5:p.Thr1025=
ENST00000679552.1:n.145C=
ENST00000679871.1:n.220C=
ENST00000679974.1:n.123C=
ENST00000681632.1:n.4477C=
ENST00000681659.1:c.2915C=	ENSP00000505631.1:p.Thr972=
ENST00000355832.9:c.3074C=	ENSP00000348089.5:p.Thr1025=
ENST00000623073.3:c.*1370C=	ENSP00000485650.1:n.*1370C=
ENST00000623115.3:c.1184C=	ENSP00000485321.1:p.Thr395=
ENST00000624341.3:c.906C=
NM_000124.3:c.3074C=	NP_000115.1:p.Thr1025=
XR_945953.1:n.243-679G=
NM_001346440.1:c.3074C=	NP_001333369.1:p.Thr1025=
NM_000124.4:c.3074C= MANE Select	NP_000115.1:p.Thr1025=
NM_001346440.2:c.3074C=	NP_001333369.1:p.Thr1025=