Canonical Allele Identifier: CA13837354
Gene: ERCC5 HGNC NCBI
BIVM-ERCC5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102849670T>G , CM000675.2:g.102849670T>G GRCh38
NC_000013.10:g.103502020T>G , CM000675.1:g.103502020T>G GRCh37
NC_000013.9:g.102300021T>G NCBI36
NG_007146.1:g.8847T>G , LRG_464:g.8847T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682632.1:n.330-2448T>G (ERCC5)
ENST00000682869.1:n.323-2448T>G (ERCC5)
ENST00000683246.1:n.451-2448T>G (ERCC5)
ENST00000684184.1:n.320-2448T>G (ERCC5)
ENST00000638434.1:c.363-4087T>G (BIVM-ERCC5)
ENST00000639118.1:c.439+476T>G (BIVM-ERCC5)
ENST00000639132.1:c.764-2448T>G (BIVM-ERCC5) ENSP00000492684.1:n.764-2448T>G
ENST00000639435.1:c.1451-2448T>G (BIVM-ERCC5) ENSP00000491742.1:n.1451-2448T>G
ENST00000651002.1:c.89-2448T>G (ERCC5) ENSP00000498809.1:n.89-2448T>G
ENST00000651055.1:n.217+476T>G (ERCC5)
ENST00000651281.1:n.456+476T>G (ERCC5)
ENST00000651470.1:c.89-2448T>G (ERCC5) ENSP00000498701.1:n.89-2448T>G
ENST00000652225.2:c.89-2448T>G (ERCC5) MANE Select ENSP00000498881.2:n.89-2448T>G
ENST00000652613.1:c.-409-2455T>G (ERCC5) ENSP00000498357.1:n.-409-2455T>G
ENST00000355739.8:c.89-2448T>G (ERCC5) ENSP00000347978.4:n.89-2448T>G
ENST00000375958.3:n.244-2448T>G (ERCC5)
ENST00000472151.1:c.125+476T>G (ERCC5) ENSP00000436083.1:n.125+476T>G
ENST00000535557.5:c.89-2448T>G (ERCC5) ENSP00000442117.1:n.89-2448T>G
ENST00000602836.1:c.1365-2448T>G (BIVM-ERCC5)
ENST00000610537.4:c.89-2448T>G (ERCC5) ENSP00000478667.1:n.89-2448T>G
NM_000123.3:c.89-2448T>G , LRG_464t1:c.89-2448T>G (ERCC5) NP_000114.2:n.89-2448T>G
NM_001204425.1:c.1451-2448T>G (BIVM-ERCC5) NP_001191354.1:n.1451-2448T>G
NM_000123.4:c.89-2448T>G (ERCC5) MANE Select NP_000114.3:n.89-2448T>G
NM_001204425.2:c.1451-2448T>G (BIVM-ERCC5) NP_001191354.2:n.1451-2448T>G
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