Canonical Allele Identifier: CA2115212548
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1595386497
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102866601T>C , CM000675.2:g.102866601T>C GRCh38
NC_000013.10:g.103518951T>C , CM000675.1:g.103518951T>C GRCh37
NC_000013.9:g.102316952T>C NCBI36
NG_007146.1:g.25778T>C , LRG_464:g.25778T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682632.1:n.2561-31T>C (ERCC5)
ENST00000682869.1:n.2969-31T>C (ERCC5)
ENST00000683246.1:n.3097-31T>C (ERCC5)
ENST00000639132.1:c.2995-31T>C (BIVM-ERCC5) ENSP00000492684.1:n.2995-31T>C
ENST00000639435.1:c.3682-31T>C (BIVM-ERCC5) ENSP00000491742.1:n.3682-31T>C
ENST00000651002.1:c.*2081-31T>C (ERCC5) ENSP00000498809.1:n.*2081-31T>C
ENST00000651055.1:n.2449-31T>C (ERCC5)
ENST00000651281.1:n.2688-31T>C (ERCC5)
ENST00000651387.1:n.1804-31T>C (ERCC5)
ENST00000651470.1:c.2320-31T>C (ERCC5) ENSP00000498701.1:n.2320-31T>C
ENST00000652225.2:c.2320-31T>C (ERCC5) MANE Select ENSP00000498881.2:n.2320-31T>C
ENST00000652613.1:c.1816-31T>C (ERCC5) ENSP00000498357.1:n.1816-31T>C
ENST00000355739.8:c.2320-31T>C (ERCC5) ENSP00000347978.4:n.2320-31T>C
ENST00000375954.1:c.19-31T>C (ERCC5) ENSP00000365121.1:n.19-31T>C
ENST00000481099.1:n.440-31T>C (ERCC5)
ENST00000602836.1:c.3596-31T>C (BIVM-ERCC5)
ENST00000610537.4:c.2320-31T>C (ERCC5) ENSP00000478667.1:n.2320-31T>C
NM_000123.3:c.2320-31T>C , LRG_464t1:c.2320-31T>C (ERCC5) NP_000114.2:n.2320-31T>C
NM_001204425.1:c.3682-31T>C (BIVM-ERCC5) NP_001191354.1:n.3682-31T>C
NM_000123.4:c.2320-31T>C (ERCC5) MANE Select NP_000114.3:n.2320-31T>C
NM_001204425.2:c.3682-31T>C (BIVM-ERCC5) NP_001191354.2:n.3682-31T>C
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