Canonical Allele Identifier: CA376717710

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679112C>G (hg19) ; chr10:g.49471066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471066C>G , CM000672.2:g.49471066C>G	GRCh38
NC_000010.10:g.50679112C>G , CM000672.1:g.50679112C>G	GRCh37
NC_000010.9:g.50349118C>G	NCBI36
NG_009442.1:g.73036G>C , LRG_465:g.73036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2979G>C MANE Select	ENSP00000348089.5:p.Arg993Ser
ENST00000679552.1:n.142-177G>C
ENST00000679871.1:n.125G>C
ENST00000679974.1:n.120-177G>C
ENST00000681632.1:n.4382G>C
ENST00000681659.1:c.2820G>C	ENSP00000505631.1:p.Arg940Ser
ENST00000355832.9:c.2979G>C	ENSP00000348089.5:p.Arg993Ser
ENST00000623073.3:c.*1275G>C	ENSP00000485650.1:n.*1275G>C
ENST00000623115.3:c.1089G>C	ENSP00000485321.1:p.Arg363Ser
ENST00000624341.3:c.811G>C
NM_000124.3:c.2979G>C	NP_000115.1:p.Arg993Ser
XR_945953.1:n.243-499C>G
NM_001346440.1:c.2979G>C	NP_001333369.1:p.Arg993Ser
NM_000124.4:c.2979G>C MANE Select	NP_000115.1:p.Arg993Ser
NM_001346440.2:c.2979G>C	NP_001333369.1:p.Arg993Ser