Canonical Allele Identifier: CA13879833
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1273170
ClinVar RCV Id: RCV001678993
dbSNP Id: rs115732965
gnomAD v2: 13-103497899-G-A
gnomAD v3: 13-102845549-G-A
gnomAD v4: 13-102845549-G-A
MyVariant Identifiers: chr13:g.103497899G>A (hg19) chr13:g.102845549G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845549G>A , CM000675.2:g.102845549G>A GRCh38
NC_000013.10:g.103497899G>A , CM000675.1:g.103497899G>A GRCh37
NC_000013.9:g.102295900G>A NCBI36
NG_007146.1:g.4726G>A , LRG_464:g.4726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8208G>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3569G>A (BIVM-ERCC5)
ENST00000639132.1:c.763+5746G>A (BIVM-ERCC5) ENSP00000492684.1:n.763+5746G>A
ENST00000639435.1:c.1450+5746G>A (BIVM-ERCC5) ENSP00000491742.1:n.1450+5746G>A
ENST00000355739.8:c.-718G>A (ERCC5) ENSP00000347978.4:n.-718G>A
ENST00000602836.1:c.1364+5746G>A (BIVM-ERCC5)
NM_001204425.1:c.1450+5746G>A (BIVM-ERCC5) NP_001191354.1:n.1450+5746G>A
NM_001204425.2:c.1450+5746G>A (BIVM-ERCC5) NP_001191354.2:n.1450+5746G>A
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