Canonical Allele Identifier: CA376717908

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49471113-A-C
• MyVariant Identifiers: chr10:g.50679159A>C (hg19) ; chr10:g.49471113A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471113A>C , CM000672.2:g.49471113A>C	GRCh38
NC_000010.10:g.50679159A>C , CM000672.1:g.50679159A>C	GRCh37
NC_000010.9:g.50349165A>C	NCBI36
NG_009442.1:g.72989T>G , LRG_465:g.72989T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2932T>G MANE Select	ENSP00000348089.5:p.Phe978Val
ENST00000679552.1:n.142-224T>G
ENST00000679871.1:n.78T>G
ENST00000679974.1:n.120-224T>G
ENST00000681632.1:n.4335T>G
ENST00000681659.1:c.2773T>G	ENSP00000505631.1:p.Phe925Val
ENST00000355832.9:c.2932T>G	ENSP00000348089.5:p.Phe978Val
ENST00000623073.3:c.*1228T>G	ENSP00000485650.1:n.*1228T>G
ENST00000623115.3:c.1042T>G	ENSP00000485321.1:p.Phe348Val
ENST00000624341.3:c.764T>G
NM_000124.3:c.2932T>G	NP_000115.1:p.Phe978Val
XR_945953.1:n.243-452A>C
NM_001346440.1:c.2932T>G	NP_001333369.1:p.Phe978Val
NM_000124.4:c.2932T>G MANE Select	NP_000115.1:p.Phe978Val
NM_001346440.2:c.2932T>G	NP_001333369.1:p.Phe978Val