Canonical Allele Identifier: CA469600328

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1130302
• ClinVar RCV Id: RCV001463765
• dbSNP Id: rs2132526608
• gnomAD v4: 10-49461435-A-G
• MyVariant Identifiers: chr10:g.50669481A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461435A>G , CM000672.2:g.49461435A>G	GRCh38
NC_000010.10:g.50669481A>G , CM000672.1:g.50669481A>G	GRCh37
NC_000010.9:g.50339487A>G	NCBI36
NG_009442.1:g.82667T>C , LRG_465:g.82667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3900T>C MANE Select	ENSP00000348089.5:p.Ser1300=
ENST00000679552.1:n.971T>C
ENST00000679871.1:n.1046T>C
ENST00000679974.1:n.949T>C
ENST00000681632.1:n.5303T>C
ENST00000681659.1:c.3741T>C	ENSP00000505631.1:p.Ser1247=
ENST00000355832.9:c.3900T>C	ENSP00000348089.5:p.Ser1300=
ENST00000465653.1:n.222T>C
ENST00000623073.3:c.*2196T>C	ENSP00000485650.1:n.*2196T>C
ENST00000623115.3:c.2010T>C	ENSP00000485321.1:p.Ser670=
ENST00000624341.3:c.1732T>C
NM_000124.3:c.3900T>C	NP_000115.1:p.Ser1300=
XR_945953.1:n.243-10130A>G
NM_001346440.1:c.3900T>C	NP_001333369.1:p.Ser1300=
NM_000124.4:c.3900T>C MANE Select	NP_000115.1:p.Ser1300=
NM_001346440.2:c.3900T>C	NP_001333369.1:p.Ser1300=