Canonical Allele Identifier: CA1908749475

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470583T= , CM000672.2:g.49470583T=	GRCh38
NC_000010.10:g.50678629T= , CM000672.1:g.50678629T=	GRCh37
NC_000010.9:g.50348635T=	NCBI36
NG_009442.1:g.73519A= , LRG_465:g.73519A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3377A= MANE Select	ENSP00000348089.5:p.Asn1126=
ENST00000679552.1:n.448A=
ENST00000679871.1:n.523A=
ENST00000679974.1:n.426A=
ENST00000681632.1:n.4780A=
ENST00000681659.1:c.3218A=	ENSP00000505631.1:p.Asn1073=
ENST00000355832.9:c.3377A=	ENSP00000348089.5:p.Asn1126=
ENST00000623073.3:c.*1673A=	ENSP00000485650.1:n.*1673A=
ENST00000623115.3:c.1487A=	ENSP00000485321.1:p.Asn496=
ENST00000624341.3:c.1209A=
NM_000124.3:c.3377A=	NP_000115.1:p.Asn1126=
XR_945953.1:n.243-982T=
NM_001346440.1:c.3377A=	NP_001333369.1:p.Asn1126=
NM_000124.4:c.3377A= MANE Select	NP_000115.1:p.Asn1126=
NM_001346440.2:c.3377A=	NP_001333369.1:p.Asn1126=