Canonical Allele Identifier: CA388675017
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1160663201

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102875614C>T , CM000675.2:g.102875614C>T GRCh38
NC_000013.10:g.103527964C>T , CM000675.1:g.103527964C>T GRCh37
NC_000013.9:g.102325965C>T NCBI36
NG_007146.1:g.34791C>T , LRG_464:g.34791C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4373C>T (ERCC5)
ENST00000682869.1:n.3921C>T (ERCC5)
ENST00000683246.1:n.4909C>T (ERCC5)
ENST00000683642.1:n.3502C>T (ERCC5)
ENST00000639132.1:c.3947C>T (BIVM-ERCC5) ENSP00000492684.1:p.Thr1316Ile
ENST00000639435.1:c.4634C>T (BIVM-ERCC5) ENSP00000491742.1:p.Thr1545Ile
ENST00000651002.1:c.*3033C>T (ERCC5) ENSP00000498809.1:n.*3033C>T
ENST00000651055.1:n.3399C>T (ERCC5)
ENST00000651281.1:n.3640C>T (ERCC5)
ENST00000651387.1:n.2756C>T (ERCC5)
ENST00000651470.1:c.*444C>T (ERCC5) ENSP00000498701.1:n.*444C>T
ENST00000652225.2:c.3272C>T (ERCC5) MANE Select ENSP00000498881.2:p.Thr1091Ile
ENST00000652613.1:c.2768C>T (ERCC5) ENSP00000498357.1:p.Thr923Ile
ENST00000355739.8:c.3272C>T (ERCC5) ENSP00000347978.4:p.Thr1091Ile
ENST00000375954.1:c.971C>T (ERCC5) ENSP00000365121.1:p.Thr324Ile
ENST00000472247.1:n.432C>T (ERCC5)
ENST00000610537.4:c.3269C>T (ERCC5) ENSP00000478667.1:p.Thr1090Ile
NM_000123.3:c.3272C>T , LRG_464t1:c.3272C>T (ERCC5) NP_000114.2:p.Thr1091Ile
NM_001204425.1:c.4634C>T (BIVM-ERCC5) NP_001191354.1:p.Thr1545Ile
NM_000123.4:c.3272C>T (ERCC5) MANE Select NP_000114.3:p.Thr1091Ile
NM_001204425.2:c.4634C>T (BIVM-ERCC5) NP_001191354.2:p.Thr1545Ile