Canonical Allele Identifier: CA251917

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1700
• ClinVar RCV Id: RCV000001768 ; RCV001851561
• dbSNP Id: rs121917900
• MyVariant Identifiers: chr10:g.50708719C>T (hg19) ; chr10:g.49500673C>T (hg38)
• PubMed: PMID:9443879

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500673C>T , CM000672.2:g.49500673C>T	GRCh38
NC_000010.10:g.50708719C>T , CM000672.1:g.50708719C>T	GRCh37
NC_000010.9:g.50378725C>T	NCBI36
NG_009442.1:g.43429G>A , LRG_465:g.43429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1550G>A MANE Select	ENSP00000348089.5:p.Trp517Ter
ENST00000681632.1:n.1628G>A
ENST00000681659.1:c.1526+5211G>A	ENSP00000505631.1:n.1526+5211G>A
ENST00000355832.9:c.1550G>A	ENSP00000348089.5:p.Trp517Ter
ENST00000475116.1:n.140G>A
ENST00000623073.3:c.-50G>A	ENSP00000485650.1:n.-50G>A
ENST00000623115.3:c.-205G>A	ENSP00000485321.1:n.-205G>A
ENST00000623318.1:c.-50G>A	ENSP00000485423.1:n.-50G>A
ENST00000623788.1:n.549G>A
NM_000124.3:c.1550G>A	NP_000115.1:p.Trp517Ter
NM_001346440.1:c.1550G>A	NP_001333369.1:p.Trp517Ter
NM_000124.4:c.1550G>A MANE Select	NP_000115.1:p.Trp517Ter
NM_001346440.2:c.1550G>A	NP_001333369.1:p.Trp517Ter