Canonical Allele Identifier: CA1908749512

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470676G= , CM000672.2:g.49470676G=	GRCh38
NC_000010.10:g.50678722G= , CM000672.1:g.50678722G=	GRCh37
NC_000010.9:g.50348728G=	NCBI36
NG_009442.1:g.73426C= , LRG_465:g.73426C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3284C= MANE Select	ENSP00000348089.5:p.Pro1095=
ENST00000679552.1:n.355C=
ENST00000679871.1:n.430C=
ENST00000679974.1:n.333C=
ENST00000681632.1:n.4687C=
ENST00000681659.1:c.3125C=	ENSP00000505631.1:p.Pro1042=
ENST00000355832.9:c.3284C=	ENSP00000348089.5:p.Pro1095=
ENST00000623073.3:c.*1580C=	ENSP00000485650.1:n.*1580C=
ENST00000623115.3:c.1394C=	ENSP00000485321.1:p.Pro465=
ENST00000624341.3:c.1116C=
NM_000124.3:c.3284C=	NP_000115.1:p.Pro1095=
XR_945953.1:n.243-889G=
NM_001346440.1:c.3284C=	NP_001333369.1:p.Pro1095=
NM_000124.4:c.3284C= MANE Select	NP_000115.1:p.Pro1095=
NM_001346440.2:c.3284C=	NP_001333369.1:p.Pro1095=