Canonical Allele Identifier: CA376713211

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678375G>T (hg19) ; chr10:g.49470329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470329G>T , CM000672.2:g.49470329G>T	GRCh38
NC_000010.10:g.50678375G>T , CM000672.1:g.50678375G>T	GRCh37
NC_000010.9:g.50348381G>T	NCBI36
NG_009442.1:g.73773C>A , LRG_465:g.73773C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3631C>A MANE Select	ENSP00000348089.5:p.His1211Asn
ENST00000679552.1:n.702C>A
ENST00000679871.1:n.777C>A
ENST00000679974.1:n.680C>A
ENST00000681632.1:n.5034C>A
ENST00000681659.1:c.3472C>A	ENSP00000505631.1:p.His1158Asn
ENST00000355832.9:c.3631C>A	ENSP00000348089.5:p.His1211Asn
ENST00000623073.3:c.*1927C>A	ENSP00000485650.1:n.*1927C>A
ENST00000623115.3:c.1741C>A	ENSP00000485321.1:p.His581Asn
ENST00000624341.3:c.1463C>A
NM_000124.3:c.3631C>A	NP_000115.1:p.His1211Asn
XR_945953.1:n.243-1236G>T
NM_001346440.1:c.3631C>A	NP_001333369.1:p.His1211Asn
NM_000124.4:c.3631C>A MANE Select	NP_000115.1:p.His1211Asn
NM_001346440.2:c.3631C>A	NP_001333369.1:p.His1211Asn