Canonical Allele Identifier: CA1908745443

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461353T= , CM000672.2:g.49461353T=	GRCh38
NC_000010.10:g.50669399T= , CM000672.1:g.50669399T=	GRCh37
NC_000010.9:g.50339405T=	NCBI36
NG_009442.1:g.82749A= , LRG_465:g.82749A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3982A= MANE Select	ENSP00000348089.5:p.Lys1328=
ENST00000679552.1:n.1053A=
ENST00000679871.1:n.1128A=
ENST00000679974.1:n.1031A=
ENST00000681632.1:n.5385A=
ENST00000681659.1:c.3823A=	ENSP00000505631.1:p.Lys1275=
ENST00000355832.9:c.3982A=	ENSP00000348089.5:p.Lys1328=
ENST00000465653.1:n.304A=
ENST00000623073.3:c.*2278A=	ENSP00000485650.1:n.*2278A=
ENST00000623115.3:c.2092A=	ENSP00000485321.1:p.Lys698=
ENST00000624341.3:c.1814A=
NM_000124.3:c.3982A=	NP_000115.1:p.Lys1328=
XR_945953.1:n.243-10212T=
NM_001346440.1:c.3982A=	NP_001333369.1:p.Lys1328=
NM_000124.4:c.3982A= MANE Select	NP_000115.1:p.Lys1328=
NM_001346440.2:c.3982A=	NP_001333369.1:p.Lys1328=