Canonical Allele Identifier: CA376717609

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49471045-A-T
• MyVariant Identifiers: chr10:g.50679091A>T (hg19) ; chr10:g.49471045A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471045A>T , CM000672.2:g.49471045A>T	GRCh38
NC_000010.10:g.50679091A>T , CM000672.1:g.50679091A>T	GRCh37
NC_000010.9:g.50349097A>T	NCBI36
NG_009442.1:g.73057T>A , LRG_465:g.73057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3000T>A MANE Select	ENSP00000348089.5:p.Asp1000Glu
ENST00000679552.1:n.142-156T>A
ENST00000679871.1:n.146T>A
ENST00000679974.1:n.120-156T>A
ENST00000681632.1:n.4403T>A
ENST00000681659.1:c.2841T>A	ENSP00000505631.1:p.Asp947Glu
ENST00000355832.9:c.3000T>A	ENSP00000348089.5:p.Asp1000Glu
ENST00000623073.3:c.*1296T>A	ENSP00000485650.1:n.*1296T>A
ENST00000623115.3:c.1110T>A	ENSP00000485321.1:p.Asp370Glu
ENST00000624341.3:c.832T>A
NM_000124.3:c.3000T>A	NP_000115.1:p.Asp1000Glu
XR_945953.1:n.243-520A>T
NM_001346440.1:c.3000T>A	NP_001333369.1:p.Asp1000Glu
NM_000124.4:c.3000T>A MANE Select	NP_000115.1:p.Asp1000Glu
NM_001346440.2:c.3000T>A	NP_001333369.1:p.Asp1000Glu