Canonical Allele Identifier: CA1908749554

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470768A= , CM000672.2:g.49470768A=	GRCh38
NC_000010.10:g.50678814A= , CM000672.1:g.50678814A=	GRCh37
NC_000010.9:g.50348820A=	NCBI36
NG_009442.1:g.73334T= , LRG_465:g.73334T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3192T= MANE Select	ENSP00000348089.5:p.Asn1064=
ENST00000679552.1:n.263T=
ENST00000679871.1:n.338T=
ENST00000679974.1:n.241T=
ENST00000681632.1:n.4595T=
ENST00000681659.1:c.3033T=	ENSP00000505631.1:p.Asn1011=
ENST00000355832.9:c.3192T=	ENSP00000348089.5:p.Asn1064=
ENST00000623073.3:c.*1488T=	ENSP00000485650.1:n.*1488T=
ENST00000623115.3:c.1302T=	ENSP00000485321.1:p.Asn434=
ENST00000624341.3:c.1024T=
NM_000124.3:c.3192T=	NP_000115.1:p.Asn1064=
XR_945953.1:n.243-797A=
NM_001346440.1:c.3192T=	NP_001333369.1:p.Asn1064=
NM_000124.4:c.3192T= MANE Select	NP_000115.1:p.Asn1064=
NM_001346440.2:c.3192T=	NP_001333369.1:p.Asn1064=