Canonical Allele Identifier: CA10633802
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI
gnomAD v2:
13:103528337 G / A
gnomAD v3:
13:102875987 G / A
gnomAD v4:
chr13-102875987-G-A
Joint Max Group AF 0.73427607 (SAS)
Genomes Max Group AF 0.71840194 (NFE)
Exomes Max Group AF 0.73476986 (SAS)
ClinVar RCV:
RCV000342790
RCV001618544
ClinVar Variation:
310945
dbSNP:
873601
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102875987G>A , CM000675.2:g.102875987G>A GRCh38
NC_000013.10:g.103528337G>A , CM000675.1:g.103528337G>A GRCh37
NC_000013.9:g.102326338G>A NCBI36
NG_007146.1:g.35164G>A , LRG_464:g.35164G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000639132.1:c.*84G>A (BIVM-ERCC5) ENSP00000492684.1:n.*84G>A
ENST00000639435.1:c.*84G>A (BIVM-ERCC5) ENSP00000491742.1:n.*84G>A
ENST00000652225.2:c.*84G>A (ERCC5) MANE Select ENSP00000498881.2:n.*84G>A
ENST00000355739.8:c.*84G>A (ERCC5) ENSP00000347978.4:n.*84G>A
ENST00000610537.4:c.*84G>A (ERCC5) ENSP00000478667.1:n.*84G>A
NM_000123.3:c.*84G>A , LRG_464t1:c.*84G>A (ERCC5) NP_000114.2:n.*84G>A
NM_001204425.1:c.*84G>A (BIVM-ERCC5) NP_001191354.1:n.*84G>A
NM_000123.4:c.*84G>A (ERCC5) MANE Select NP_000114.3:n.*84G>A
NM_001204425.2:c.*84G>A (BIVM-ERCC5) NP_001191354.2:n.*84G>A
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