Canonical Allele Identifier: CA5495359

Gene: ERCC6

Linked Data

• dbSNP Id: rs147079519
• ExAC: 10:50678615 T / G
• gnomAD v2: 10-50678615-T-G
• gnomAD v4: 10-49470569-T-G
• MyVariant Identifiers: chr10:g.50678615T>G (hg19) ; chr10:g.49470569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470569T>G , CM000672.2:g.49470569T>G	GRCh38
NC_000010.10:g.50678615T>G , CM000672.1:g.50678615T>G	GRCh37
NC_000010.9:g.50348621T>G	NCBI36
NG_009442.1:g.73533A>C , LRG_465:g.73533A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3391A>C MANE Select	ENSP00000348089.5:p.Asn1131His
ENST00000679552.1:n.462A>C
ENST00000679871.1:n.537A>C
ENST00000679974.1:n.440A>C
ENST00000681632.1:n.4794A>C
ENST00000681659.1:c.3232A>C	ENSP00000505631.1:p.Asn1078His
ENST00000355832.9:c.3391A>C	ENSP00000348089.5:p.Asn1131His
ENST00000623073.3:c.*1687A>C	ENSP00000485650.1:n.*1687A>C
ENST00000623115.3:c.1501A>C	ENSP00000485321.1:p.Asn501His
ENST00000624341.3:c.1223A>C
NM_000124.3:c.3391A>C	NP_000115.1:p.Asn1131His
XR_945953.1:n.243-996T>G
NM_001346440.1:c.3391A>C	NP_001333369.1:p.Asn1131His
NM_000124.4:c.3391A>C MANE Select	NP_000115.1:p.Asn1131His
NM_001346440.2:c.3391A>C	NP_001333369.1:p.Asn1131His