Canonical Allele Identifier: CA5495456

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2189089
• ClinVar RCV Id: RCV002607094
• dbSNP Id: rs766459533
• ExAC: 10:50679101 T / G
• gnomAD v2: 10-50679101-T-G
• gnomAD v3: 10-49471055-T-G
• gnomAD v4: 10-49471055-T-G
• MyVariant Identifiers: chr10:g.50679101T>G (hg19) ; chr10:g.49471055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471055T>G , CM000672.2:g.49471055T>G	GRCh38
NC_000010.10:g.50679101T>G , CM000672.1:g.50679101T>G	GRCh37
NC_000010.9:g.50349107T>G	NCBI36
NG_009442.1:g.73047A>C , LRG_465:g.73047A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2990A>C MANE Select	ENSP00000348089.5:p.Lys997Thr
ENST00000679552.1:n.142-166A>C
ENST00000679871.1:n.136A>C
ENST00000679974.1:n.120-166A>C
ENST00000681632.1:n.4393A>C
ENST00000681659.1:c.2831A>C	ENSP00000505631.1:p.Lys944Thr
ENST00000355832.9:c.2990A>C	ENSP00000348089.5:p.Lys997Thr
ENST00000623073.3:c.*1286A>C	ENSP00000485650.1:n.*1286A>C
ENST00000623115.3:c.1100A>C	ENSP00000485321.1:p.Lys367Thr
ENST00000624341.3:c.822A>C
NM_000124.3:c.2990A>C	NP_000115.1:p.Lys997Thr
XR_945953.1:n.243-510T>G
NM_001346440.1:c.2990A>C	NP_001333369.1:p.Lys997Thr
NM_000124.4:c.2990A>C MANE Select	NP_000115.1:p.Lys997Thr
NM_001346440.2:c.2990A>C	NP_001333369.1:p.Lys997Thr