Canonical Allele Identifier: CA469600350

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2006733
• ClinVar RCV Id: RCV002837890
• MyVariant Identifiers: chr10:g.50669514C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461468C>T , CM000672.2:g.49461468C>T	GRCh38
NC_000010.10:g.50669514C>T , CM000672.1:g.50669514C>T	GRCh37
NC_000010.9:g.50339520C>T	NCBI36
NG_009442.1:g.82634G>A , LRG_465:g.82634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3867G>A MANE Select	ENSP00000348089.5:p.Val1289=
ENST00000679552.1:n.938G>A
ENST00000679871.1:n.1013G>A
ENST00000679974.1:n.916G>A
ENST00000681632.1:n.5270G>A
ENST00000681659.1:c.3708G>A	ENSP00000505631.1:p.Val1236=
ENST00000355832.9:c.3867G>A	ENSP00000348089.5:p.Val1289=
ENST00000465653.1:n.189G>A
ENST00000623073.3:c.*2163G>A	ENSP00000485650.1:n.*2163G>A
ENST00000623115.3:c.1977G>A	ENSP00000485321.1:p.Val659=
ENST00000624341.3:c.1699G>A
NM_000124.3:c.3867G>A	NP_000115.1:p.Val1289=
XR_945953.1:n.243-10097C>T
NM_001346440.1:c.3867G>A	NP_001333369.1:p.Val1289=
NM_000124.4:c.3867G>A MANE Select	NP_000115.1:p.Val1289=
NM_001346440.2:c.3867G>A	NP_001333369.1:p.Val1289=