Canonical Allele Identifier: CA1908745530

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461524T= , CM000672.2:g.49461524T=	GRCh38
NC_000010.10:g.50669570T= , CM000672.1:g.50669570T=	GRCh37
NC_000010.9:g.50339576T=	NCBI36
NG_009442.1:g.82578A= , LRG_465:g.82578A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3811A= MANE Select	ENSP00000348089.5:p.Ile1271=
ENST00000679552.1:n.882A=
ENST00000679871.1:n.957A=
ENST00000679974.1:n.860A=
ENST00000681632.1:n.5214A=
ENST00000681659.1:c.3652A=	ENSP00000505631.1:p.Ile1218=
ENST00000355832.9:c.3811A=	ENSP00000348089.5:p.Ile1271=
ENST00000465653.1:n.133A=
ENST00000623073.3:c.*2107A=	ENSP00000485650.1:n.*2107A=
ENST00000623115.3:c.1921A=	ENSP00000485321.1:p.Ile641=
ENST00000624341.3:c.1643A=
NM_000124.3:c.3811A=	NP_000115.1:p.Ile1271=
XR_945953.1:n.243-10041T=
NM_001346440.1:c.3811A=	NP_001333369.1:p.Ile1271=
NM_000124.4:c.3811A= MANE Select	NP_000115.1:p.Ile1271=
NM_001346440.2:c.3811A=	NP_001333369.1:p.Ile1271=