Canonical Allele Identifier: CA388673526
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102873299G>T , CM000675.2:g.102873299G>T GRCh38
NC_000013.10:g.103525649G>T , CM000675.1:g.103525649G>T GRCh37
NC_000013.9:g.102323650G>T NCBI36
NG_007146.1:g.32476G>T , LRG_464:g.32476G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.4021G>T (ERCC5)
ENST00000682869.1:n.3569G>T (ERCC5)
ENST00000683246.1:n.4557G>T (ERCC5)
ENST00000683642.1:n.3150G>T (ERCC5)
ENST00000639132.1:c.3595G>T (BIVM-ERCC5) ENSP00000492684.1:p.Asp1199Tyr
ENST00000639435.1:c.4282G>T (BIVM-ERCC5) ENSP00000491742.1:p.Asp1428Tyr
ENST00000651002.1:c.*2681G>T (ERCC5) ENSP00000498809.1:n.*2681G>T
ENST00000651055.1:n.3047G>T (ERCC5)
ENST00000651281.1:n.3288G>T (ERCC5)
ENST00000651387.1:n.2404G>T (ERCC5)
ENST00000651470.1:c.*92G>T (ERCC5) ENSP00000498701.1:n.*92G>T
ENST00000652225.2:c.2920G>T (ERCC5) MANE Select ENSP00000498881.2:p.Asp974Tyr
ENST00000652613.1:c.2416G>T (ERCC5) ENSP00000498357.1:p.Asp806Tyr
ENST00000355739.8:c.2920G>T (ERCC5) ENSP00000347978.4:p.Asp974Tyr
ENST00000375954.1:c.619G>T (ERCC5) ENSP00000365121.1:p.Asp207Tyr
ENST00000610537.4:c.2917G>T (ERCC5) ENSP00000478667.1:p.Asp973Tyr
NM_000123.3:c.2920G>T , LRG_464t1:c.2920G>T (ERCC5) NP_000114.2:p.Asp974Tyr
NM_001204425.1:c.4282G>T (BIVM-ERCC5) NP_001191354.1:p.Asp1428Tyr
NM_000123.4:c.2920G>T (ERCC5) MANE Select NP_000114.3:p.Asp974Tyr
NM_001204425.2:c.4282G>T (BIVM-ERCC5) NP_001191354.2:p.Asp1428Tyr