Canonical Allele Identifier: CA115162

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1712
• ClinVar RCV Id: RCV000001782
• dbSNP Id: rs121917905
• MyVariant Identifiers: chr10:g.50679131A>G (hg19) ; chr10:g.49471085A>G (hg38)
• PubMed: PMID:18628313

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471085A>G , CM000672.2:g.49471085A>G	GRCh38
NC_000010.10:g.50679131A>G , CM000672.1:g.50679131A>G	GRCh37
NC_000010.9:g.50349137A>G	NCBI36
NG_009442.1:g.73017T>C , LRG_465:g.73017T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2960T>C MANE Select	ENSP00000348089.5:p.Leu987Pro
ENST00000679552.1:n.142-196T>C
ENST00000679871.1:n.106T>C
ENST00000679974.1:n.120-196T>C
ENST00000681632.1:n.4363T>C
ENST00000681659.1:c.2801T>C	ENSP00000505631.1:p.Leu934Pro
ENST00000355832.9:c.2960T>C	ENSP00000348089.5:p.Leu987Pro
ENST00000623073.3:c.*1256T>C	ENSP00000485650.1:n.*1256T>C
ENST00000623115.3:c.1070T>C	ENSP00000485321.1:p.Leu357Pro
ENST00000624341.3:c.792T>C
NM_000124.3:c.2960T>C	NP_000115.1:p.Leu987Pro
XR_945953.1:n.243-480A>G
NM_001346440.1:c.2960T>C	NP_001333369.1:p.Leu987Pro
NM_000124.4:c.2960T>C MANE Select	NP_000115.1:p.Leu987Pro
NM_001346440.2:c.2960T>C	NP_001333369.1:p.Leu987Pro