Canonical Allele Identifier: CA5495211

Gene: ERCC6

Linked Data

• dbSNP Id: rs758249800
• ExAC: 10:50669351 T / G
• gnomAD v2: 10-50669351-T-G
• gnomAD v3: 10-49461305-T-G
• gnomAD v4: 10-49461305-T-G
• MyVariant Identifiers: chr10:g.50669351T>G (hg19) ; chr10:g.49461305T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461305T>G , CM000672.2:g.49461305T>G	GRCh38
NC_000010.10:g.50669351T>G , CM000672.1:g.50669351T>G	GRCh37
NC_000010.9:g.50339357T>G	NCBI36
NG_009442.1:g.82797A>C , LRG_465:g.82797A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3983+47A>C MANE Select	ENSP00000348089.5:n.3983+47A>C
ENST00000679552.1:n.1054+47A>C
ENST00000679871.1:n.1129+47A>C
ENST00000679974.1:n.1032+47A>C
ENST00000681632.1:n.5386+47A>C
ENST00000681659.1:c.3824+47A>C	ENSP00000505631.1:n.3824+47A>C
ENST00000355832.9:c.3983+47A>C	ENSP00000348089.5:n.3983+47A>C
ENST00000465653.1:n.305+47A>C
ENST00000623073.3:c.*2279+47A>C	ENSP00000485650.1:n.*2279+47A>C
ENST00000623115.3:c.2093+47A>C	ENSP00000485321.1:n.2093+47A>C
ENST00000624341.3:c.1815+47A>C
NM_000124.3:c.3983+47A>C	NP_000115.1:n.3983+47A>C
XR_945953.1:n.243-10260T>G
NM_001346440.1:c.3983+47A>C	NP_001333369.1:n.3983+47A>C
NM_000124.4:c.3983+47A>C MANE Select	NP_000115.1:n.3983+47A>C
NM_001346440.2:c.3983+47A>C	NP_001333369.1:n.3983+47A>C