Canonical Allele Identifier: CA694374584
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1006490421
gnomAD v4: 13-102845688-T-C
MyVariant Identifiers: chr13:g.103498038T>C (hg19) chr13:g.102845688T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845688T>C , CM000675.2:g.102845688T>C GRCh38
NC_000013.10:g.103498038T>C , CM000675.1:g.103498038T>C GRCh37
NC_000013.9:g.102296039T>C NCBI36
NG_007146.1:g.4865T>C , LRG_464:g.4865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8069T>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3430T>C (BIVM-ERCC5)
ENST00000639132.1:c.763+5885T>C (BIVM-ERCC5) ENSP00000492684.1:n.763+5885T>C
ENST00000639435.1:c.1450+5885T>C (BIVM-ERCC5) ENSP00000491742.1:n.1450+5885T>C
ENST00000355739.8:c.-579T>C (ERCC5) ENSP00000347978.4:n.-579T>C
ENST00000602836.1:c.1364+5885T>C (BIVM-ERCC5)
NM_001204425.1:c.1450+5885T>C (BIVM-ERCC5) NP_001191354.1:n.1450+5885T>C
NM_001204425.2:c.1450+5885T>C (BIVM-ERCC5) NP_001191354.2:n.1450+5885T>C
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