Canonical Allele Identifier: CA206576118

Gene: ERCC6

Linked Data

• dbSNP Id: rs569356037
• gnomAD v3: 10-49461296-T-C
• gnomAD v4: 10-49461296-T-C
• MyVariant Identifiers: chr10:g.50669342T>C (hg19) ; chr10:g.49461296T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461296T>C , CM000672.2:g.49461296T>C	GRCh38
NC_000010.10:g.50669342T>C , CM000672.1:g.50669342T>C	GRCh37
NC_000010.9:g.50339348T>C	NCBI36
NG_009442.1:g.82806A>G , LRG_465:g.82806A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3983+56A>G MANE Select	ENSP00000348089.5:n.3983+56A>G
ENST00000679552.1:n.1054+56A>G
ENST00000679871.1:n.1129+56A>G
ENST00000679974.1:n.1032+56A>G
ENST00000681632.1:n.5386+56A>G
ENST00000681659.1:c.3824+56A>G	ENSP00000505631.1:n.3824+56A>G
ENST00000355832.9:c.3983+56A>G	ENSP00000348089.5:n.3983+56A>G
ENST00000465653.1:n.305+56A>G
ENST00000623073.3:c.*2279+56A>G	ENSP00000485650.1:n.*2279+56A>G
ENST00000623115.3:c.2093+56A>G	ENSP00000485321.1:n.2093+56A>G
ENST00000624341.3:c.1815+56A>G
NM_000124.3:c.3983+56A>G	NP_000115.1:n.3983+56A>G
XR_945953.1:n.243-10269T>C
NM_001346440.1:c.3983+56A>G	NP_001333369.1:n.3983+56A>G
NM_000124.4:c.3983+56A>G MANE Select	NP_000115.1:n.3983+56A>G
NM_001346440.2:c.3983+56A>G	NP_001333369.1:n.3983+56A>G