Canonical Allele Identifier: CA1908745465

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461398T= , CM000672.2:g.49461398T=	GRCh38
NC_000010.10:g.50669444T= , CM000672.1:g.50669444T=	GRCh37
NC_000010.9:g.50339450T=	NCBI36
NG_009442.1:g.82704A= , LRG_465:g.82704A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3937A= MANE Select	ENSP00000348089.5:p.Thr1313=
ENST00000679552.1:n.1008A=
ENST00000679871.1:n.1083A=
ENST00000679974.1:n.986A=
ENST00000681632.1:n.5340A=
ENST00000681659.1:c.3778A=	ENSP00000505631.1:p.Thr1260=
ENST00000355832.9:c.3937A=	ENSP00000348089.5:p.Thr1313=
ENST00000465653.1:n.259A=
ENST00000623073.3:c.*2233A=	ENSP00000485650.1:n.*2233A=
ENST00000623115.3:c.2047A=	ENSP00000485321.1:p.Thr683=
ENST00000624341.3:c.1769A=
NM_000124.3:c.3937A=	NP_000115.1:p.Thr1313=
XR_945953.1:n.243-10167T=
NM_001346440.1:c.3937A=	NP_001333369.1:p.Thr1313=
NM_000124.4:c.3937A= MANE Select	NP_000115.1:p.Thr1313=
NM_001346440.2:c.3937A=	NP_001333369.1:p.Thr1313=