Canonical Allele Identifier: CA376717156

Gene: ERCC6

Linked Data

• dbSNP Id: rs1417536821
• gnomAD v2: 10-50678921-C-T
• gnomAD v4: 10-49470875-C-T
• MyVariant Identifiers: chr10:g.50678921C>T (hg19) ; chr10:g.49470875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470875C>T , CM000672.2:g.49470875C>T	GRCh38
NC_000010.10:g.50678921C>T , CM000672.1:g.50678921C>T	GRCh37
NC_000010.9:g.50348927C>T	NCBI36
NG_009442.1:g.73227G>A , LRG_465:g.73227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3085G>A MANE Select	ENSP00000348089.5:p.Val1029Ile
ENST00000679552.1:n.156G>A
ENST00000679871.1:n.231G>A
ENST00000679974.1:n.134G>A
ENST00000681632.1:n.4488G>A
ENST00000681659.1:c.2926G>A	ENSP00000505631.1:p.Val976Ile
ENST00000355832.9:c.3085G>A	ENSP00000348089.5:p.Val1029Ile
ENST00000623073.3:c.*1381G>A	ENSP00000485650.1:n.*1381G>A
ENST00000623115.3:c.1195G>A	ENSP00000485321.1:p.Val399Ile
ENST00000624341.3:c.917G>A
NM_000124.3:c.3085G>A	NP_000115.1:p.Val1029Ile
XR_945953.1:n.243-690C>T
NM_001346440.1:c.3085G>A	NP_001333369.1:p.Val1029Ile
NM_000124.4:c.3085G>A MANE Select	NP_000115.1:p.Val1029Ile
NM_001346440.2:c.3085G>A	NP_001333369.1:p.Val1029Ile