Canonical Allele Identifier: CA2623612878
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

gnomAD v4: 13-102845826-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845826A>T , CM000675.2:g.102845826A>T GRCh38
NC_000013.10:g.103498176A>T , CM000675.1:g.103498176A>T GRCh37
NC_000013.9:g.102296177A>T NCBI36
NG_007146.1:g.5003A>T , LRG_464:g.5003A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-7931A>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3292A>T (BIVM-ERCC5)
ENST00000639132.1:c.763+6023A>T (BIVM-ERCC5) ENSP00000492684.1:n.763+6023A>T
ENST00000639435.1:c.1450+6023A>T (BIVM-ERCC5) ENSP00000491742.1:n.1450+6023A>T
ENST00000355739.8:c.-441A>T (ERCC5) ENSP00000347978.4:n.-441A>T
ENST00000602836.1:c.1364+6023A>T (BIVM-ERCC5)
NM_001204425.1:c.1450+6023A>T (BIVM-ERCC5) NP_001191354.1:n.1450+6023A>T
NM_001204425.2:c.1450+6023A>T (BIVM-ERCC5) NP_001191354.2:n.1450+6023A>T
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