Canonical Allele Identifier: CA1908749678

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471011C= , CM000672.2:g.49471011C=	GRCh38
NC_000010.10:g.50679057C= , CM000672.1:g.50679057C=	GRCh37
NC_000010.9:g.50349063C=	NCBI36
NG_009442.1:g.73091G= , LRG_465:g.73091G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3034G= MANE Select	ENSP00000348089.5:p.Ala1012=
ENST00000679552.1:n.142-122G=
ENST00000679871.1:n.180G=
ENST00000679974.1:n.120-122G=
ENST00000681632.1:n.4437G=
ENST00000681659.1:c.2875G=	ENSP00000505631.1:p.Ala959=
ENST00000355832.9:c.3034G=	ENSP00000348089.5:p.Ala1012=
ENST00000623073.3:c.*1330G=	ENSP00000485650.1:n.*1330G=
ENST00000623115.3:c.1144G=	ENSP00000485321.1:p.Ala382=
ENST00000624341.3:c.866G=
NM_000124.3:c.3034G=	NP_000115.1:p.Ala1012=
XR_945953.1:n.243-554C=
NM_001346440.1:c.3034G=	NP_001333369.1:p.Ala1012=
NM_000124.4:c.3034G= MANE Select	NP_000115.1:p.Ala1012=
NM_001346440.2:c.3034G=	NP_001333369.1:p.Ala1012=