Canonical Allele Identifier: CA376726651

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701285C>G (hg19) ; chr10:g.49493239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493239C>G , CM000672.2:g.49493239C>G	GRCh38
NC_000010.10:g.50701285C>G , CM000672.1:g.50701285C>G	GRCh37
NC_000010.9:g.50371291C>G	NCBI36
NG_009442.1:g.50863G>C , LRG_465:g.50863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1699G>C MANE Select	ENSP00000348089.5:p.Gly567Arg
ENST00000681632.1:n.1777G>C
ENST00000681659.1:c.1540G>C	ENSP00000505631.1:p.Gly514Arg
ENST00000355832.9:c.1699G>C	ENSP00000348089.5:p.Gly567Arg
ENST00000475116.1:n.275+7299G>C
ENST00000623073.3:c.100G>C	ENSP00000485650.1:p.Gly34Arg
ENST00000623115.3:c.-70+7299G>C	ENSP00000485321.1:n.-70+7299G>C
ENST00000623318.1:c.100G>C	ENSP00000485423.1:p.Gly34Arg
NM_000124.3:c.1699G>C	NP_000115.1:p.Gly567Arg
NM_001346440.1:c.1699G>C	NP_001333369.1:p.Gly567Arg
NM_000124.4:c.1699G>C MANE Select	NP_000115.1:p.Gly567Arg
NM_001346440.2:c.1699G>C	NP_001333369.1:p.Gly567Arg