Canonical Allele Identifier: CA5495407

Gene: ERCC6

Linked Data

• dbSNP Id: rs778197774
• ExAC: 10:50678887 A / T
• gnomAD v2: 10-50678887-A-T
• gnomAD v4: 10-49470841-A-T
• MyVariant Identifiers: chr10:g.50678887A>T (hg19) ; chr10:g.49470841A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470841A>T , CM000672.2:g.49470841A>T	GRCh38
NC_000010.10:g.50678887A>T , CM000672.1:g.50678887A>T	GRCh37
NC_000010.9:g.50348893A>T	NCBI36
NG_009442.1:g.73261T>A , LRG_465:g.73261T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3119T>A MANE Select	ENSP00000348089.5:p.Ile1040Asn
ENST00000679552.1:n.190T>A
ENST00000679871.1:n.265T>A
ENST00000679974.1:n.168T>A
ENST00000681632.1:n.4522T>A
ENST00000681659.1:c.2960T>A	ENSP00000505631.1:p.Ile987Asn
ENST00000355832.9:c.3119T>A	ENSP00000348089.5:p.Ile1040Asn
ENST00000623073.3:c.*1415T>A	ENSP00000485650.1:n.*1415T>A
ENST00000623115.3:c.1229T>A	ENSP00000485321.1:p.Ile410Asn
ENST00000624341.3:c.951T>A
NM_000124.3:c.3119T>A	NP_000115.1:p.Ile1040Asn
XR_945953.1:n.243-724A>T
NM_001346440.1:c.3119T>A	NP_001333369.1:p.Ile1040Asn
NM_000124.4:c.3119T>A MANE Select	NP_000115.1:p.Ile1040Asn
NM_001346440.2:c.3119T>A	NP_001333369.1:p.Ile1040Asn