Canonical Allele Identifier: CA206584394

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2228486
• ClinVar RCV Id: RCV002712309
• dbSNP Id: rs369745517
• gnomAD v2: 10-50678480-T-A
• gnomAD v3: 10-49470434-T-A
• gnomAD v4: 10-49470434-T-A
• MyVariant Identifiers: chr10:g.50678480T>A (hg19) ; chr10:g.49470434T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470434T>A , CM000672.2:g.49470434T>A	GRCh38
NC_000010.10:g.50678480T>A , CM000672.1:g.50678480T>A	GRCh37
NC_000010.9:g.50348486T>A	NCBI36
NG_009442.1:g.73668A>T , LRG_465:g.73668A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3526A>T MANE Select	ENSP00000348089.5:p.Asn1176Tyr
ENST00000679552.1:n.597A>T
ENST00000679871.1:n.672A>T
ENST00000679974.1:n.575A>T
ENST00000681632.1:n.4929A>T
ENST00000681659.1:c.3367A>T	ENSP00000505631.1:p.Asn1123Tyr
ENST00000355832.9:c.3526A>T	ENSP00000348089.5:p.Asn1176Tyr
ENST00000623073.3:c.*1822A>T	ENSP00000485650.1:n.*1822A>T
ENST00000623115.3:c.1636A>T	ENSP00000485321.1:p.Asn546Tyr
ENST00000624341.3:c.1358A>T
NM_000124.3:c.3526A>T	NP_000115.1:p.Asn1176Tyr
XR_945953.1:n.243-1131T>A
NM_001346440.1:c.3526A>T	NP_001333369.1:p.Asn1176Tyr
NM_000124.4:c.3526A>T MANE Select	NP_000115.1:p.Asn1176Tyr
NM_001346440.2:c.3526A>T	NP_001333369.1:p.Asn1176Tyr