Canonical Allele Identifier: CA5495310

Gene: ERCC6

Linked Data

• dbSNP Id: rs762497840
• ExAC: 10:50678373 A / G
• gnomAD v2: 10-50678373-A-G
• gnomAD v4: 10-49470327-A-G
• MyVariant Identifiers: chr10:g.50678373A>G (hg19) ; chr10:g.49470327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470327A>G , CM000672.2:g.49470327A>G	GRCh38
NC_000010.10:g.50678373A>G , CM000672.1:g.50678373A>G	GRCh37
NC_000010.9:g.50348379A>G	NCBI36
NG_009442.1:g.73775T>C , LRG_465:g.73775T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3633T>C MANE Select	ENSP00000348089.5:p.His1211=
ENST00000679552.1:n.704T>C
ENST00000679871.1:n.779T>C
ENST00000679974.1:n.682T>C
ENST00000681632.1:n.5036T>C
ENST00000681659.1:c.3474T>C	ENSP00000505631.1:p.His1158=
ENST00000355832.9:c.3633T>C	ENSP00000348089.5:p.His1211=
ENST00000623073.3:c.*1929T>C	ENSP00000485650.1:n.*1929T>C
ENST00000623115.3:c.1743T>C	ENSP00000485321.1:p.His581=
ENST00000624341.3:c.1465T>C
NM_000124.3:c.3633T>C	NP_000115.1:p.His1211=
XR_945953.1:n.243-1238A>G
NM_001346440.1:c.3633T>C	NP_001333369.1:p.His1211=
NM_000124.4:c.3633T>C MANE Select	NP_000115.1:p.His1211=
NM_001346440.2:c.3633T>C	NP_001333369.1:p.His1211=