Canonical Allele Identifier: CA376713567

Gene: ERCC6

Linked Data

• dbSNP Id: rs757369362
• gnomAD v3: 10-49470370-T-A
• gnomAD v4: 10-49470370-T-A
• MyVariant Identifiers: chr10:g.50678416T>A (hg19) ; chr10:g.49470370T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470370T>A , CM000672.2:g.49470370T>A	GRCh38
NC_000010.10:g.50678416T>A , CM000672.1:g.50678416T>A	GRCh37
NC_000010.9:g.50348422T>A	NCBI36
NG_009442.1:g.73732A>T , LRG_465:g.73732A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3590A>T MANE Select	ENSP00000348089.5:p.Glu1197Val
ENST00000679552.1:n.661A>T
ENST00000679871.1:n.736A>T
ENST00000679974.1:n.639A>T
ENST00000681632.1:n.4993A>T
ENST00000681659.1:c.3431A>T	ENSP00000505631.1:p.Glu1144Val
ENST00000355832.9:c.3590A>T	ENSP00000348089.5:p.Glu1197Val
ENST00000623073.3:c.*1886A>T	ENSP00000485650.1:n.*1886A>T
ENST00000623115.3:c.1700A>T	ENSP00000485321.1:p.Glu567Val
ENST00000624341.3:c.1422A>T
NM_000124.3:c.3590A>T	NP_000115.1:p.Glu1197Val
XR_945953.1:n.243-1195T>A
NM_001346440.1:c.3590A>T	NP_001333369.1:p.Glu1197Val
NM_000124.4:c.3590A>T MANE Select	NP_000115.1:p.Glu1197Val
NM_001346440.2:c.3590A>T	NP_001333369.1:p.Glu1197Val