Canonical Allele Identifier: CA10604527

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 283555
• ClinVar RCV Id: RCV000260044 ; RCV000664624
• dbSNP Id: rs886042655
• gnomAD v2: 10-50678372-A-T
• gnomAD v4: 10-49470326-A-T
• MyVariant Identifiers: chr10:g.50678372A>T (hg19) ; chr10:g.49470326A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470326A>T , CM000672.2:g.49470326A>T	GRCh38
NC_000010.10:g.50678372A>T , CM000672.1:g.50678372A>T	GRCh37
NC_000010.9:g.50348378A>T	NCBI36
NG_009442.1:g.73776T>A , LRG_465:g.73776T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3634T>A MANE Select	ENSP00000348089.5:p.Cys1212Ser
ENST00000679552.1:n.705T>A
ENST00000679871.1:n.780T>A
ENST00000679974.1:n.683T>A
ENST00000681632.1:n.5037T>A
ENST00000681659.1:c.3475T>A	ENSP00000505631.1:p.Cys1159Ser
ENST00000355832.9:c.3634T>A	ENSP00000348089.5:p.Cys1212Ser
ENST00000623073.3:c.*1930T>A	ENSP00000485650.1:n.*1930T>A
ENST00000623115.3:c.1744T>A	ENSP00000485321.1:p.Cys582Ser
ENST00000624341.3:c.1466T>A
NM_000124.3:c.3634T>A	NP_000115.1:p.Cys1212Ser
XR_945953.1:n.243-1239A>T
NM_001346440.1:c.3634T>A	NP_001333369.1:p.Cys1212Ser
NM_000124.4:c.3634T>A MANE Select	NP_000115.1:p.Cys1212Ser
NM_001346440.2:c.3634T>A	NP_001333369.1:p.Cys1212Ser