Canonical Allele Identifier: CA376712266

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2113722
• ClinVar RCV Id: RCV003029688
• gnomAD v4: 10-49470184-G-C
• MyVariant Identifiers: chr10:g.50678230G>C (hg19) ; chr10:g.49470184G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470184G>C , CM000672.2:g.49470184G>C	GRCh38
NC_000010.10:g.50678230G>C , CM000672.1:g.50678230G>C	GRCh37
NC_000010.9:g.50348236G>C	NCBI36
NG_009442.1:g.73918C>G , LRG_465:g.73918C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3776C>G MANE Select	ENSP00000348089.5:p.Ser1259Ter
ENST00000679552.1:n.847C>G
ENST00000679871.1:n.922C>G
ENST00000679974.1:n.825C>G
ENST00000681632.1:n.5179C>G
ENST00000681659.1:c.3617C>G	ENSP00000505631.1:p.Ser1206Ter
ENST00000355832.9:c.3776C>G	ENSP00000348089.5:p.Ser1259Ter
ENST00000465653.1:n.98C>G
ENST00000623073.3:c.*2072C>G	ENSP00000485650.1:n.*2072C>G
ENST00000623115.3:c.1886C>G	ENSP00000485321.1:p.Ser629Ter
ENST00000624341.3:c.1608C>G
NM_000124.3:c.3776C>G	NP_000115.1:p.Ser1259Ter
XR_945953.1:n.243-1381G>C
NM_001346440.1:c.3776C>G	NP_001333369.1:p.Ser1259Ter
NM_000124.4:c.3776C>G MANE Select	NP_000115.1:p.Ser1259Ter
NM_001346440.2:c.3776C>G	NP_001333369.1:p.Ser1259Ter