Canonical Allele Identifier: CA376726471

Gene: ERCC6

Linked Data

• dbSNP Id: rs1177814245
• gnomAD v2: 10-50701204-C-T
• gnomAD v4: 10-49493158-C-T
• MyVariant Identifiers: chr10:g.50701204C>T (hg19) ; chr10:g.49493158C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493158C>T , CM000672.2:g.49493158C>T	GRCh38
NC_000010.10:g.50701204C>T , CM000672.1:g.50701204C>T	GRCh37
NC_000010.9:g.50371210C>T	NCBI36
NG_009442.1:g.50944G>A , LRG_465:g.50944G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1780G>A MANE Select	ENSP00000348089.5:p.Val594Met
ENST00000681632.1:n.1858G>A
ENST00000681659.1:c.1621G>A	ENSP00000505631.1:p.Val541Met
ENST00000355832.9:c.1780G>A	ENSP00000348089.5:p.Val594Met
ENST00000475116.1:n.275+7380G>A
ENST00000623073.3:c.181G>A	ENSP00000485650.1:p.Val61Met
ENST00000623115.3:c.-70+7380G>A	ENSP00000485321.1:n.-70+7380G>A
ENST00000623318.1:c.181G>A	ENSP00000485423.1:p.Val61Met
NM_000124.3:c.1780G>A	NP_000115.1:p.Val594Met
NM_001346440.1:c.1780G>A	NP_001333369.1:p.Val594Met
NM_000124.4:c.1780G>A MANE Select	NP_000115.1:p.Val594Met
NM_001346440.2:c.1780G>A	NP_001333369.1:p.Val594Met