Canonical Allele Identifier: CA1908745057

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460379C= , CM000672.2:g.49460379C=	GRCh38
NC_000010.10:g.50668425C= , CM000672.1:g.50668425C=	GRCh37
NC_000010.9:g.50338431C=	NCBI36
NG_009442.1:g.83723G= , LRG_465:g.83723G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4056G= MANE Select	ENSP00000348089.5:p.Lys1352=
ENST00000679552.1:n.1127G=
ENST00000679871.1:n.1202G=
ENST00000679974.1:n.1105G=
ENST00000681632.1:n.5459G=
ENST00000681659.1:c.3897G=	ENSP00000505631.1:p.Lys1299=
ENST00000355832.9:c.4056G=	ENSP00000348089.5:p.Lys1352=
ENST00000465653.1:n.378G=
ENST00000623073.3:c.*2352G=	ENSP00000485650.1:n.*2352G=
ENST00000623115.3:c.2166G=	ENSP00000485321.1:p.Lys722=
ENST00000624341.3:c.1888G=
NM_000124.3:c.4056G=	NP_000115.1:p.Lys1352=
XR_945953.1:n.243-11186C=
NM_001346440.1:c.4056G=	NP_001333369.1:p.Lys1352=
NM_000124.4:c.4056G= MANE Select	NP_000115.1:p.Lys1352=
NM_001346440.2:c.4056G=	NP_001333369.1:p.Lys1352=