Canonical Allele Identifier: CA5495358

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300051
• ClinVar RCV Id: RCV000264621 ; RCV000318342 ; RCV000375317 ; RCV000994389 ; RCV002520594
• dbSNP Id: rs147079519
• ExAC: 10:50678615 T / C
• gnomAD v2: 10-50678615-T-C
• gnomAD v3: 10-49470569-T-C
• gnomAD v4: 10-49470569-T-C
• MyVariant Identifiers: chr10:g.50678615T>C (hg19) ; chr10:g.49470569T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470569T>C , CM000672.2:g.49470569T>C	GRCh38
NC_000010.10:g.50678615T>C , CM000672.1:g.50678615T>C	GRCh37
NC_000010.9:g.50348621T>C	NCBI36
NG_009442.1:g.73533A>G , LRG_465:g.73533A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3391A>G MANE Select	ENSP00000348089.5:p.Asn1131Asp
ENST00000679552.1:n.462A>G
ENST00000679871.1:n.537A>G
ENST00000679974.1:n.440A>G
ENST00000681632.1:n.4794A>G
ENST00000681659.1:c.3232A>G	ENSP00000505631.1:p.Asn1078Asp
ENST00000355832.9:c.3391A>G	ENSP00000348089.5:p.Asn1131Asp
ENST00000623073.3:c.*1687A>G	ENSP00000485650.1:n.*1687A>G
ENST00000623115.3:c.1501A>G	ENSP00000485321.1:p.Asn501Asp
ENST00000624341.3:c.1223A>G
NM_000124.3:c.3391A>G	NP_000115.1:p.Asn1131Asp
XR_945953.1:n.243-996T>C
NM_001346440.1:c.3391A>G	NP_001333369.1:p.Asn1131Asp
NM_000124.4:c.3391A>G MANE Select	NP_000115.1:p.Asn1131Asp
NM_001346440.2:c.3391A>G	NP_001333369.1:p.Asn1131Asp