Canonical Allele Identifier: CA376716796

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49470818-G-T
• MyVariant Identifiers: chr10:g.50678864G>T (hg19) ; chr10:g.49470818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470818G>T , CM000672.2:g.49470818G>T	GRCh38
NC_000010.10:g.50678864G>T , CM000672.1:g.50678864G>T	GRCh37
NC_000010.9:g.50348870G>T	NCBI36
NG_009442.1:g.73284C>A , LRG_465:g.73284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3142C>A MANE Select	ENSP00000348089.5:p.His1048Asn
ENST00000679552.1:n.213C>A
ENST00000679871.1:n.288C>A
ENST00000679974.1:n.191C>A
ENST00000681632.1:n.4545C>A
ENST00000681659.1:c.2983C>A	ENSP00000505631.1:p.His995Asn
ENST00000355832.9:c.3142C>A	ENSP00000348089.5:p.His1048Asn
ENST00000623073.3:c.*1438C>A	ENSP00000485650.1:n.*1438C>A
ENST00000623115.3:c.1252C>A	ENSP00000485321.1:p.His418Asn
ENST00000624341.3:c.974C>A
NM_000124.3:c.3142C>A	NP_000115.1:p.His1048Asn
XR_945953.1:n.243-747G>T
NM_001346440.1:c.3142C>A	NP_001333369.1:p.His1048Asn
NM_000124.4:c.3142C>A MANE Select	NP_000115.1:p.His1048Asn
NM_001346440.2:c.3142C>A	NP_001333369.1:p.His1048Asn