Canonical Allele Identifier: CA1908749607

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470870C= , CM000672.2:g.49470870C=	GRCh38
NC_000010.10:g.50678916C= , CM000672.1:g.50678916C=	GRCh37
NC_000010.9:g.50348922C=	NCBI36
NG_009442.1:g.73232G= , LRG_465:g.73232G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3090G= MANE Select	ENSP00000348089.5:p.Gln1030=
ENST00000679552.1:n.161G=
ENST00000679871.1:n.236G=
ENST00000679974.1:n.139G=
ENST00000681632.1:n.4493G=
ENST00000681659.1:c.2931G=	ENSP00000505631.1:p.Gln977=
ENST00000355832.9:c.3090G=	ENSP00000348089.5:p.Gln1030=
ENST00000623073.3:c.*1386G=	ENSP00000485650.1:n.*1386G=
ENST00000623115.3:c.1200G=	ENSP00000485321.1:p.Gln400=
ENST00000624341.3:c.922G=
NM_000124.3:c.3090G=	NP_000115.1:p.Gln1030=
XR_945953.1:n.243-695C=
NM_001346440.1:c.3090G=	NP_001333369.1:p.Gln1030=
NM_000124.4:c.3090G= MANE Select	NP_000115.1:p.Gln1030=
NM_001346440.2:c.3090G=	NP_001333369.1:p.Gln1030=