Canonical Allele Identifier: CA959657001
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

dbSNP Id: rs1229699776
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845750C>T , CM000675.2:g.102845750C>T GRCh38
NC_000013.10:g.103498100C>T , CM000675.1:g.103498100C>T GRCh37
NC_000013.9:g.102296101C>T NCBI36
NG_007146.1:g.4927C>T , LRG_464:g.4927C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000638434.1:c.363-8007C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3368C>T (BIVM-ERCC5)
ENST00000639132.1:c.763+5947C>T (BIVM-ERCC5) ENSP00000492684.1:n.763+5947C>T
ENST00000639435.1:c.1450+5947C>T (BIVM-ERCC5) ENSP00000491742.1:n.1450+5947C>T
ENST00000355739.8:c.-517C>T (ERCC5) ENSP00000347978.4:n.-517C>T
ENST00000602836.1:c.1364+5947C>T (BIVM-ERCC5)
NM_001204425.1:c.1450+5947C>T (BIVM-ERCC5) NP_001191354.1:n.1450+5947C>T
NM_001204425.2:c.1450+5947C>T (BIVM-ERCC5) NP_001191354.2:n.1450+5947C>T
Search 100 bp 5'
Search 100 bp 3'