Canonical Allele Identifier: CA7041584
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 310931
dbSNP Id: rs201206202

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102866357C>T , CM000675.2:g.102866357C>T GRCh38
NC_000013.10:g.103518707C>T , CM000675.1:g.103518707C>T GRCh37
NC_000013.9:g.102316708C>T NCBI36
NG_007146.1:g.25534C>T , LRG_464:g.25534C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.2536C>T (ERCC5)
ENST00000682869.1:n.2944C>T (ERCC5)
ENST00000683246.1:n.3072C>T (ERCC5)
ENST00000639132.1:c.2970C>T (BIVM-ERCC5) ENSP00000492684.1:p.Thr990=
ENST00000639435.1:c.3657C>T (BIVM-ERCC5) ENSP00000491742.1:p.Thr1219=
ENST00000651002.1:c.*2056C>T (ERCC5) ENSP00000498809.1:n.*2056C>T
ENST00000651055.1:n.2424C>T (ERCC5)
ENST00000651281.1:n.2663C>T (ERCC5)
ENST00000651387.1:n.1779C>T (ERCC5)
ENST00000651470.1:c.2295C>T (ERCC5) ENSP00000498701.1:p.Thr765=
ENST00000652225.2:c.2295C>T (ERCC5) MANE Select ENSP00000498881.2:p.Thr765=
ENST00000652613.1:c.1791C>T (ERCC5) ENSP00000498357.1:p.Thr597=
ENST00000355739.8:c.2295C>T (ERCC5) ENSP00000347978.4:p.Thr765=
ENST00000375954.1:c.-7C>T (ERCC5) ENSP00000365121.1:n.-7C>T
ENST00000481099.1:n.415C>T (ERCC5)
ENST00000602836.1:c.3571C>T (BIVM-ERCC5)
ENST00000610537.4:c.2295C>T (ERCC5) ENSP00000478667.1:p.Thr765=
NM_000123.3:c.2295C>T , LRG_464t1:c.2295C>T (ERCC5) NP_000114.2:p.Thr765=
NM_001204425.1:c.3657C>T (BIVM-ERCC5) NP_001191354.1:p.Thr1219=
NM_000123.4:c.2295C>T (ERCC5) MANE Select NP_000114.3:p.Thr765=
NM_001204425.2:c.3657C>T (BIVM-ERCC5) NP_001191354.2:p.Thr1219=