Canonical Allele Identifier: CA376716794

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678864G>A (hg19) ; chr10:g.49470818G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3142C>T MANE Select	ENSP00000348089.5:p.His1048Tyr
ENST00000679552.1:n.213C>T
ENST00000679871.1:n.288C>T
ENST00000679974.1:n.191C>T
ENST00000681632.1:n.4545C>T
ENST00000681659.1:c.2983C>T	ENSP00000505631.1:p.His995Tyr
ENST00000355832.9:c.3142C>T	ENSP00000348089.5:p.His1048Tyr
ENST00000623073.3:c.*1438C>T	ENSP00000485650.1:n.*1438C>T
ENST00000623115.3:c.1252C>T	ENSP00000485321.1:p.His418Tyr
ENST00000624341.3:c.974C>T
NM_000124.3:c.3142C>T	NP_000115.1:p.His1048Tyr
XR_945953.1:n.243-747G>A
NM_001346440.1:c.3142C>T	NP_001333369.1:p.His1048Tyr
NM_000124.4:c.3142C>T MANE Select	NP_000115.1:p.His1048Tyr
NM_001346440.2:c.3142C>T	NP_001333369.1:p.His1048Tyr