Canonical Allele Identifier: CA5495770

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 287219
• ClinVar RCV Id: RCV000358004 ; RCV000263243 ; RCV000304579 ; RCV000725973 ; RCV004535380
• dbSNP Id: rs55698015
• ExAC: 10:50690806 G / A
• gnomAD v2: 10-50690806-G-A
• gnomAD v3: 10-49482760-G-A
• gnomAD v4: 10-49482760-G-A
• MyVariant Identifiers: chr10:g.50690806G>A (hg19) ; chr10:g.49482760G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482760G>A , CM000672.2:g.49482760G>A	GRCh38
NC_000010.10:g.50690806G>A , CM000672.1:g.50690806G>A	GRCh37
NC_000010.9:g.50360812G>A	NCBI36
NG_009442.1:g.61342C>T , LRG_465:g.61342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2096C>T MANE Select	ENSP00000348089.5:p.Thr699Met
ENST00000681632.1:n.2174C>T
ENST00000681659.1:c.1937C>T	ENSP00000505631.1:p.Thr646Met
ENST00000355832.9:c.2096C>T	ENSP00000348089.5:p.Thr699Met
ENST00000623073.3:c.*488C>T	ENSP00000485650.1:n.*488C>T
ENST00000623115.3:c.206C>T	ENSP00000485321.1:p.Thr69Met
NM_000124.3:c.2096C>T	NP_000115.1:p.Thr699Met
NM_001346440.1:c.2096C>T	NP_001333369.1:p.Thr699Met
NM_000124.4:c.2096C>T MANE Select	NP_000115.1:p.Thr699Met
NM_001346440.2:c.2096C>T	NP_001333369.1:p.Thr699Met