Canonical Allele Identifier: CA469604012

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690796C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482750C>G , CM000672.2:g.49482750C>G	GRCh38
NC_000010.10:g.50690796C>G , CM000672.1:g.50690796C>G	GRCh37
NC_000010.9:g.50360802C>G	NCBI36
NG_009442.1:g.61352G>C , LRG_465:g.61352G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2106G>C MANE Select	ENSP00000348089.5:p.Val702=
ENST00000681632.1:n.2184G>C
ENST00000681659.1:c.1947G>C	ENSP00000505631.1:p.Val649=
ENST00000355832.9:c.2106G>C	ENSP00000348089.5:p.Val702=
ENST00000623073.3:c.*498G>C	ENSP00000485650.1:n.*498G>C
ENST00000623115.3:c.216G>C	ENSP00000485321.1:p.Val72=
NM_000124.3:c.2106G>C	NP_000115.1:p.Val702=
NM_001346440.1:c.2106G>C	NP_001333369.1:p.Val702=
NM_000124.4:c.2106G>C MANE Select	NP_000115.1:p.Val702=
NM_001346440.2:c.2106G>C	NP_001333369.1:p.Val702=