Canonical Allele Identifier: CA959657002
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1881929129
gnomAD v3: 13-102845770-A-G
gnomAD v4: 13-102845770-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845770A>G , CM000675.2:g.102845770A>G GRCh38
NC_000013.10:g.103498120A>G , CM000675.1:g.103498120A>G GRCh37
NC_000013.9:g.102296121A>G NCBI36
NG_007146.1:g.4947A>G , LRG_464:g.4947A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000638434.1:c.363-7987A>G (BIVM-ERCC5)
ENST00000639118.1:c.363-3348A>G (BIVM-ERCC5)
ENST00000639132.1:c.763+5967A>G (BIVM-ERCC5) ENSP00000492684.1:n.763+5967A>G
ENST00000639435.1:c.1450+5967A>G (BIVM-ERCC5) ENSP00000491742.1:n.1450+5967A>G
ENST00000355739.8:c.-497A>G (ERCC5) ENSP00000347978.4:n.-497A>G
ENST00000602836.1:c.1364+5967A>G (BIVM-ERCC5)
NM_001204425.1:c.1450+5967A>G (BIVM-ERCC5) NP_001191354.1:n.1450+5967A>G
NM_001204425.2:c.1450+5967A>G (BIVM-ERCC5) NP_001191354.2:n.1450+5967A>G
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