Canonical Allele Identifier: CA376724150

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690748A>T (hg19) ; chr10:g.49482702A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482702A>T , CM000672.2:g.49482702A>T	GRCh38
NC_000010.10:g.50690748A>T , CM000672.1:g.50690748A>T	GRCh37
NC_000010.9:g.50360754A>T	NCBI36
NG_009442.1:g.61400T>A , LRG_465:g.61400T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2154T>A MANE Select	ENSP00000348089.5:p.Asn718Lys
ENST00000681632.1:n.2232T>A
ENST00000681659.1:c.1995T>A	ENSP00000505631.1:p.Asn665Lys
ENST00000355832.9:c.2154T>A	ENSP00000348089.5:p.Asn718Lys
ENST00000623073.3:c.*546T>A	ENSP00000485650.1:n.*546T>A
ENST00000623115.3:c.264T>A	ENSP00000485321.1:p.Asn88Lys
NM_000124.3:c.2154T>A	NP_000115.1:p.Asn718Lys
NM_001346440.1:c.2154T>A	NP_001333369.1:p.Asn718Lys
NM_000124.4:c.2154T>A MANE Select	NP_000115.1:p.Asn718Lys
NM_001346440.2:c.2154T>A	NP_001333369.1:p.Asn718Lys