Canonical Allele Identifier: CA376725265

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49483501-C-T
• MyVariant Identifiers: chr10:g.50691547C>T (hg19) ; chr10:g.49483501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483501C>T , CM000672.2:g.49483501C>T	GRCh38
NC_000010.10:g.50691547C>T , CM000672.1:g.50691547C>T	GRCh37
NC_000010.9:g.50361553C>T	NCBI36
NG_009442.1:g.60601G>A , LRG_465:g.60601G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1837G>A MANE Select	ENSP00000348089.5:p.Asp613Asn
ENST00000681632.1:n.1915G>A
ENST00000681659.1:c.1678G>A	ENSP00000505631.1:p.Asp560Asn
ENST00000355832.9:c.1837G>A	ENSP00000348089.5:p.Asp613Asn
ENST00000475116.1:n.291G>A
ENST00000623073.3:c.*229G>A	ENSP00000485650.1:n.*229G>A
ENST00000623115.3:c.-54G>A	ENSP00000485321.1:n.-54G>A
ENST00000623318.1:c.238G>A	ENSP00000485423.1:p.Asp80Asn
NM_000124.3:c.1837G>A	NP_000115.1:p.Asp613Asn
NM_001346440.1:c.1837G>A	NP_001333369.1:p.Asp613Asn
NM_000124.4:c.1837G>A MANE Select	NP_000115.1:p.Asp613Asn
NM_001346440.2:c.1837G>A	NP_001333369.1:p.Asp613Asn