Canonical Allele Identifier: CA1908749470

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470572A= , CM000672.2:g.49470572A=	GRCh38
NC_000010.10:g.50678618A= , CM000672.1:g.50678618A=	GRCh37
NC_000010.9:g.50348624A=	NCBI36
NG_009442.1:g.73530T= , LRG_465:g.73530T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3388T= MANE Select	ENSP00000348089.5:p.Ser1130=
ENST00000679552.1:n.459T=
ENST00000679871.1:n.534T=
ENST00000679974.1:n.437T=
ENST00000681632.1:n.4791T=
ENST00000681659.1:c.3229T=	ENSP00000505631.1:p.Ser1077=
ENST00000355832.9:c.3388T=	ENSP00000348089.5:p.Ser1130=
ENST00000623073.3:c.*1684T=	ENSP00000485650.1:n.*1684T=
ENST00000623115.3:c.1498T=	ENSP00000485321.1:p.Ser500=
ENST00000624341.3:c.1220T=
NM_000124.3:c.3388T=	NP_000115.1:p.Ser1130=
XR_945953.1:n.243-993A=
NM_001346440.1:c.3388T=	NP_001333369.1:p.Ser1130=
NM_000124.4:c.3388T= MANE Select	NP_000115.1:p.Ser1130=
NM_001346440.2:c.3388T=	NP_001333369.1:p.Ser1130=