Canonical Allele Identifier: CA376704855

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2167438
• ClinVar RCV Id: RCV003086442
• dbSNP Id: rs1300774334
• gnomAD v2: 10-50667279-T-A
• MyVariant Identifiers: chr10:g.50667279T>A (hg19) ; chr10:g.49459233T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459233T>A , CM000672.2:g.49459233T>A	GRCh38
NC_000010.10:g.50667279T>A , CM000672.1:g.50667279T>A	GRCh37
NC_000010.9:g.50337285T>A	NCBI36
NG_009442.1:g.84869A>T , LRG_465:g.84869A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4064A>T MANE Select	ENSP00000348089.5:p.Asp1355Val
ENST00000679552.1:n.2273A>T
ENST00000679871.1:n.1210A>T
ENST00000679974.1:n.1113A>T
ENST00000681632.1:n.5467A>T
ENST00000681659.1:c.3905A>T	ENSP00000505631.1:p.Asp1302Val
ENST00000355832.9:c.4064A>T	ENSP00000348089.5:p.Asp1355Val
ENST00000623073.3:c.*2360A>T	ENSP00000485650.1:n.*2360A>T
ENST00000623115.3:c.2174A>T	ENSP00000485321.1:p.Asp725Val
ENST00000624341.3:c.1896A>T
NM_000124.3:c.4064A>T	NP_000115.1:p.Asp1355Val
XR_945953.1:n.243-12332T>A
NM_001346440.1:c.4064A>T	NP_001333369.1:p.Asp1355Val
NM_000124.4:c.4064A>T MANE Select	NP_000115.1:p.Asp1355Val
NM_001346440.2:c.4064A>T	NP_001333369.1:p.Asp1355Val