Canonical Allele Identifier: CA376708820

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2441290
• ClinVar RCV Id: RCV003147119
• gnomAD v4: 10-49461553-C-T
• MyVariant Identifiers: chr10:g.50669599C>T (hg19) ; chr10:g.49461553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461553C>T , CM000672.2:g.49461553C>T	GRCh38
NC_000010.10:g.50669599C>T , CM000672.1:g.50669599C>T	GRCh37
NC_000010.9:g.50339605C>T	NCBI36
NG_009442.1:g.82549G>A , LRG_465:g.82549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3782G>A MANE Select	ENSP00000348089.5:p.Gly1261Asp
ENST00000679552.1:n.853G>A
ENST00000679871.1:n.928G>A
ENST00000679974.1:n.831G>A
ENST00000681632.1:n.5185G>A
ENST00000681659.1:c.3623G>A	ENSP00000505631.1:p.Gly1208Asp
ENST00000355832.9:c.3782G>A	ENSP00000348089.5:p.Gly1261Asp
ENST00000465653.1:n.104G>A
ENST00000623073.3:c.*2078G>A	ENSP00000485650.1:n.*2078G>A
ENST00000623115.3:c.1892G>A	ENSP00000485321.1:p.Gly631Asp
ENST00000624341.3:c.1614G>A
NM_000124.3:c.3782G>A	NP_000115.1:p.Gly1261Asp
XR_945953.1:n.243-10012C>T
NM_001346440.1:c.3782G>A	NP_001333369.1:p.Gly1261Asp
NM_000124.4:c.3782G>A MANE Select	NP_000115.1:p.Gly1261Asp
NM_001346440.2:c.3782G>A	NP_001333369.1:p.Gly1261Asp