Canonical Allele Identifier: CA5495461

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2072031
• ClinVar RCV Id: RCV002949465
• dbSNP Id: rs760686954
• ExAC: 10:50679132 G / T
• gnomAD v2: 10-50679132-G-T
• gnomAD v3: 10-49471086-G-T
• gnomAD v4: 10-49471086-G-T
• MyVariant Identifiers: chr10:g.50679132G>T (hg19) ; chr10:g.49471086G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471086G>T , CM000672.2:g.49471086G>T	GRCh38
NC_000010.10:g.50679132G>T , CM000672.1:g.50679132G>T	GRCh37
NC_000010.9:g.50349138G>T	NCBI36
NG_009442.1:g.73016C>A , LRG_465:g.73016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2959C>A MANE Select	ENSP00000348089.5:p.Leu987Ile
ENST00000679552.1:n.142-197C>A
ENST00000679871.1:n.105C>A
ENST00000679974.1:n.120-197C>A
ENST00000681632.1:n.4362C>A
ENST00000681659.1:c.2800C>A	ENSP00000505631.1:p.Leu934Ile
ENST00000355832.9:c.2959C>A	ENSP00000348089.5:p.Leu987Ile
ENST00000623073.3:c.*1255C>A	ENSP00000485650.1:n.*1255C>A
ENST00000623115.3:c.1069C>A	ENSP00000485321.1:p.Leu357Ile
ENST00000624341.3:c.791C>A
NM_000124.3:c.2959C>A	NP_000115.1:p.Leu987Ile
XR_945953.1:n.243-479G>T
NM_001346440.1:c.2959C>A	NP_001333369.1:p.Leu987Ile
NM_000124.4:c.2959C>A MANE Select	NP_000115.1:p.Leu987Ile
NM_001346440.2:c.2959C>A	NP_001333369.1:p.Leu987Ile