Canonical Allele Identifier: CA376708298

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461403-A-G
• MyVariant Identifiers: chr10:g.50669449A>G (hg19) ; chr10:g.49461403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461403A>G , CM000672.2:g.49461403A>G	GRCh38
NC_000010.10:g.50669449A>G , CM000672.1:g.50669449A>G	GRCh37
NC_000010.9:g.50339455A>G	NCBI36
NG_009442.1:g.82699T>C , LRG_465:g.82699T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3932T>C MANE Select	ENSP00000348089.5:p.Val1311Ala
ENST00000679552.1:n.1003T>C
ENST00000679871.1:n.1078T>C
ENST00000679974.1:n.981T>C
ENST00000681632.1:n.5335T>C
ENST00000681659.1:c.3773T>C	ENSP00000505631.1:p.Val1258Ala
ENST00000355832.9:c.3932T>C	ENSP00000348089.5:p.Val1311Ala
ENST00000465653.1:n.254T>C
ENST00000623073.3:c.*2228T>C	ENSP00000485650.1:n.*2228T>C
ENST00000623115.3:c.2042T>C	ENSP00000485321.1:p.Val681Ala
ENST00000624341.3:c.1764T>C
NM_000124.3:c.3932T>C	NP_000115.1:p.Val1311Ala
XR_945953.1:n.243-10162A>G
NM_001346440.1:c.3932T>C	NP_001333369.1:p.Val1311Ala
NM_000124.4:c.3932T>C MANE Select	NP_000115.1:p.Val1311Ala
NM_001346440.2:c.3932T>C	NP_001333369.1:p.Val1311Ala