Canonical Allele Identifier: CA376713941

Gene: ERCC6

Linked Data

• dbSNP Id: rs144328884
• gnomAD v2: 10-50678463-G-T
• MyVariant Identifiers: chr10:g.50678463G>T (hg19) ; chr10:g.49470417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470417G>T , CM000672.2:g.49470417G>T	GRCh38
NC_000010.10:g.50678463G>T , CM000672.1:g.50678463G>T	GRCh37
NC_000010.9:g.50348469G>T	NCBI36
NG_009442.1:g.73685C>A , LRG_465:g.73685C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3543C>A MANE Select	ENSP00000348089.5:p.His1181Gln
ENST00000679552.1:n.614C>A
ENST00000679871.1:n.689C>A
ENST00000679974.1:n.592C>A
ENST00000681632.1:n.4946C>A
ENST00000681659.1:c.3384C>A	ENSP00000505631.1:p.His1128Gln
ENST00000355832.9:c.3543C>A	ENSP00000348089.5:p.His1181Gln
ENST00000623073.3:c.*1839C>A	ENSP00000485650.1:n.*1839C>A
ENST00000623115.3:c.1653C>A	ENSP00000485321.1:p.His551Gln
ENST00000624341.3:c.1375C>A
NM_000124.3:c.3543C>A	NP_000115.1:p.His1181Gln
XR_945953.1:n.243-1148G>T
NM_001346440.1:c.3543C>A	NP_001333369.1:p.His1181Gln
NM_000124.4:c.3543C>A MANE Select	NP_000115.1:p.His1181Gln
NM_001346440.2:c.3543C>A	NP_001333369.1:p.His1181Gln