Canonical Allele Identifier: CA1908749455

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470530C= , CM000672.2:g.49470530C=	GRCh38
NC_000010.10:g.50678576C= , CM000672.1:g.50678576C=	GRCh37
NC_000010.9:g.50348582C=	NCBI36
NG_009442.1:g.73572G= , LRG_465:g.73572G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3430G= MANE Select	ENSP00000348089.5:p.Asp1144=
ENST00000679552.1:n.501G=
ENST00000679871.1:n.576G=
ENST00000679974.1:n.479G=
ENST00000681632.1:n.4833G=
ENST00000681659.1:c.3271G=	ENSP00000505631.1:p.Asp1091=
ENST00000355832.9:c.3430G=	ENSP00000348089.5:p.Asp1144=
ENST00000623073.3:c.*1726G=	ENSP00000485650.1:n.*1726G=
ENST00000623115.3:c.1540G=	ENSP00000485321.1:p.Asp514=
ENST00000624341.3:c.1262G=
NM_000124.3:c.3430G=	NP_000115.1:p.Asp1144=
XR_945953.1:n.243-1035C=
NM_001346440.1:c.3430G=	NP_001333369.1:p.Asp1144=
NM_000124.4:c.3430G= MANE Select	NP_000115.1:p.Asp1144=
NM_001346440.2:c.3430G=	NP_001333369.1:p.Asp1144=