Canonical Allele Identifier: CA5495347

Gene: ERCC6

Linked Data

• dbSNP Id: rs749166731
• ExAC: 10:50678547 A / C
• gnomAD v2: 10-50678547-A-C
• gnomAD v4: 10-49470501-A-C
• MyVariant Identifiers: chr10:g.50678547A>C (hg19) ; chr10:g.49470501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470501A>C , CM000672.2:g.49470501A>C	GRCh38
NC_000010.10:g.50678547A>C , CM000672.1:g.50678547A>C	GRCh37
NC_000010.9:g.50348553A>C	NCBI36
NG_009442.1:g.73601T>G , LRG_465:g.73601T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3459T>G MANE Select	ENSP00000348089.5:p.Leu1153=
ENST00000679552.1:n.530T>G
ENST00000679871.1:n.605T>G
ENST00000679974.1:n.508T>G
ENST00000681632.1:n.4862T>G
ENST00000681659.1:c.3300T>G	ENSP00000505631.1:p.Leu1100=
ENST00000355832.9:c.3459T>G	ENSP00000348089.5:p.Leu1153=
ENST00000623073.3:c.*1755T>G	ENSP00000485650.1:n.*1755T>G
ENST00000623115.3:c.1569T>G	ENSP00000485321.1:p.Leu523=
ENST00000624341.3:c.1291T>G
NM_000124.3:c.3459T>G	NP_000115.1:p.Leu1153=
XR_945953.1:n.243-1064A>C
NM_001346440.1:c.3459T>G	NP_001333369.1:p.Leu1153=
NM_000124.4:c.3459T>G MANE Select	NP_000115.1:p.Leu1153=
NM_001346440.2:c.3459T>G	NP_001333369.1:p.Leu1153=