Canonical Allele Identifier: CA5495378

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1429108
• ClinVar RCV Id: RCV001938764
• dbSNP Id: rs370757757
• ExAC: 10:50678727 A / T
• gnomAD v2: 10-50678727-A-T
• gnomAD v3: 10-49470681-A-T
• gnomAD v4: 10-49470681-A-T
• MyVariant Identifiers: chr10:g.50678727A>T (hg19) ; chr10:g.49470681A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470681A>T , CM000672.2:g.49470681A>T	GRCh38
NC_000010.10:g.50678727A>T , CM000672.1:g.50678727A>T	GRCh37
NC_000010.9:g.50348733A>T	NCBI36
NG_009442.1:g.73421T>A , LRG_465:g.73421T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3279T>A MANE Select	ENSP00000348089.5:p.Asp1093Glu
ENST00000679552.1:n.350T>A
ENST00000679871.1:n.425T>A
ENST00000679974.1:n.328T>A
ENST00000681632.1:n.4682T>A
ENST00000681659.1:c.3120T>A	ENSP00000505631.1:p.Asp1040Glu
ENST00000355832.9:c.3279T>A	ENSP00000348089.5:p.Asp1093Glu
ENST00000623073.3:c.*1575T>A	ENSP00000485650.1:n.*1575T>A
ENST00000623115.3:c.1389T>A	ENSP00000485321.1:p.Asp463Glu
ENST00000624341.3:c.1111T>A
NM_000124.3:c.3279T>A	NP_000115.1:p.Asp1093Glu
XR_945953.1:n.243-884A>T
NM_001346440.1:c.3279T>A	NP_001333369.1:p.Asp1093Glu
NM_000124.4:c.3279T>A MANE Select	NP_000115.1:p.Asp1093Glu
NM_001346440.2:c.3279T>A	NP_001333369.1:p.Asp1093Glu