Canonical Allele Identifier: CA1908749543

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470732T= , CM000672.2:g.49470732T=	GRCh38
NC_000010.10:g.50678778T= , CM000672.1:g.50678778T=	GRCh37
NC_000010.9:g.50348784T=	NCBI36
NG_009442.1:g.73370A= , LRG_465:g.73370A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3228A= MANE Select	ENSP00000348089.5:p.Lys1076=
ENST00000679552.1:n.299A=
ENST00000679871.1:n.374A=
ENST00000679974.1:n.277A=
ENST00000681632.1:n.4631A=
ENST00000681659.1:c.3069A=	ENSP00000505631.1:p.Lys1023=
ENST00000355832.9:c.3228A=	ENSP00000348089.5:p.Lys1076=
ENST00000623073.3:c.*1524A=	ENSP00000485650.1:n.*1524A=
ENST00000623115.3:c.1338A=	ENSP00000485321.1:p.Lys446=
ENST00000624341.3:c.1060A=
NM_000124.3:c.3228A=	NP_000115.1:p.Lys1076=
XR_945953.1:n.243-833T=
NM_001346440.1:c.3228A=	NP_001333369.1:p.Lys1076=
NM_000124.4:c.3228A= MANE Select	NP_000115.1:p.Lys1076=
NM_001346440.2:c.3228A=	NP_001333369.1:p.Lys1076=