Canonical Allele Identifier: CA3174146074

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482857T= , CM000672.2:g.49482857T=	GRCh38
NC_000010.10:g.50690903T= , CM000672.1:g.50690903T=	GRCh37
NC_000010.9:g.50360909T=	NCBI36
NG_009442.1:g.61245A= , LRG_465:g.61245A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1999A= MANE Select	NP_000115.1:p.Thr667=
ENST00000355832.10:c.1999A= MANE Select	ENSP00000348089.5:p.Thr667=
NM_000124.3:c.1999A=	NP_000115.1:p.Thr667=
NM_001346440.1:c.1999A=	NP_001333369.1:p.Thr667=
NM_001346440.2:c.1999A=	NP_001333369.1:p.Thr667=
ENST00000355832.9:c.1999A=	ENSP00000348089.5:p.Thr667=
ENST00000623073.3:c.*391A=	ENSP00000485650.1:n.*391A=
ENST00000623115.3:c.109A=	ENSP00000485321.1:p.Thr37=
ENST00000681632.1:n.2077A=
ENST00000681659.1:c.1840A=	ENSP00000505631.1:p.Thr614=