Canonical Allele Identifier: CA5495253

Gene: ERCC6

Linked Data

• dbSNP Id: rs753296620
• ExAC: 10:50669538 C / G
• gnomAD v2: 10-50669538-C-G
• gnomAD v4: 10-49461492-C-G
• MyVariant Identifiers: chr10:g.50669538C>G (hg19) ; chr10:g.49461492C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461492C>G , CM000672.2:g.49461492C>G	GRCh38
NC_000010.10:g.50669538C>G , CM000672.1:g.50669538C>G	GRCh37
NC_000010.9:g.50339544C>G	NCBI36
NG_009442.1:g.82610G>C , LRG_465:g.82610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3843G>C MANE Select	ENSP00000348089.5:p.Leu1281=
ENST00000679552.1:n.914G>C
ENST00000679871.1:n.989G>C
ENST00000679974.1:n.892G>C
ENST00000681632.1:n.5246G>C
ENST00000681659.1:c.3684G>C	ENSP00000505631.1:p.Leu1228=
ENST00000355832.9:c.3843G>C	ENSP00000348089.5:p.Leu1281=
ENST00000465653.1:n.165G>C
ENST00000623073.3:c.*2139G>C	ENSP00000485650.1:n.*2139G>C
ENST00000623115.3:c.1953G>C	ENSP00000485321.1:p.Leu651=
ENST00000624341.3:c.1675G>C
NM_000124.3:c.3843G>C	NP_000115.1:p.Leu1281=
XR_945953.1:n.243-10073C>G
NM_001346440.1:c.3843G>C	NP_001333369.1:p.Leu1281=
NM_000124.4:c.3843G>C MANE Select	NP_000115.1:p.Leu1281=
NM_001346440.2:c.3843G>C	NP_001333369.1:p.Leu1281=