Canonical Allele Identifier: CA255207296
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1238248
ClinVar RCV Id: RCV001638651
dbSNP Id: rs4150247
gnomAD v2: 13-103497917-T-C
gnomAD v3: 13-102845567-T-C
gnomAD v4: 13-102845567-T-C
MyVariant Identifiers: chr13:g.103497917T>C (hg19) chr13:g.102845567T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845567T>C , CM000675.2:g.102845567T>C GRCh38
NC_000013.10:g.103497917T>C , CM000675.1:g.103497917T>C GRCh37
NC_000013.9:g.102295918T>C NCBI36
NG_007146.1:g.4744T>C , LRG_464:g.4744T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8190T>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3551T>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5764T>C (BIVM-ERCC5) ENSP00000492684.1:n.763+5764T>C
ENST00000639435.1:c.1450+5764T>C (BIVM-ERCC5) ENSP00000491742.1:n.1450+5764T>C
ENST00000355739.8:c.-700T>C (ERCC5) ENSP00000347978.4:n.-700T>C
ENST00000602836.1:c.1364+5764T>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5764T>C (BIVM-ERCC5) NP_001191354.1:n.1450+5764T>C
NM_001204425.2:c.1450+5764T>C (BIVM-ERCC5) NP_001191354.2:n.1450+5764T>C
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