Canonical Allele Identifier: CA5495328

Gene: ERCC6

Linked Data

• dbSNP Id: rs144328884
• ExAC: 10:50678463 G / A
• gnomAD v2: 10-50678463-G-A
• gnomAD v4: 10-49470417-G-A
• MyVariant Identifiers: chr10:g.50678463G>A (hg19) ; chr10:g.49470417G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3543C>T MANE Select	ENSP00000348089.5:p.His1181=
ENST00000679552.1:n.614C>T
ENST00000679871.1:n.689C>T
ENST00000679974.1:n.592C>T
ENST00000681632.1:n.4946C>T
ENST00000681659.1:c.3384C>T	ENSP00000505631.1:p.His1128=
ENST00000355832.9:c.3543C>T	ENSP00000348089.5:p.His1181=
ENST00000623073.3:c.*1839C>T	ENSP00000485650.1:n.*1839C>T
ENST00000623115.3:c.1653C>T	ENSP00000485321.1:p.His551=
ENST00000624341.3:c.1375C>T
NM_000124.3:c.3543C>T	NP_000115.1:p.His1181=
XR_945953.1:n.243-1148G>A
NM_001346440.1:c.3543C>T	NP_001333369.1:p.His1181=
NM_000124.4:c.3543C>T MANE Select	NP_000115.1:p.His1181=
NM_001346440.2:c.3543C>T	NP_001333369.1:p.His1181=