Canonical Allele Identifier: CA2623612493
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

gnomAD v4: 13-102845671-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845671G>T , CM000675.2:g.102845671G>T GRCh38
NC_000013.10:g.103498021G>T , CM000675.1:g.103498021G>T GRCh37
NC_000013.9:g.102296022G>T NCBI36
NG_007146.1:g.4848G>T , LRG_464:g.4848G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-8086G>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3447G>T (BIVM-ERCC5)
ENST00000639132.1:c.763+5868G>T (BIVM-ERCC5) ENSP00000492684.1:n.763+5868G>T
ENST00000639435.1:c.1450+5868G>T (BIVM-ERCC5) ENSP00000491742.1:n.1450+5868G>T
ENST00000355739.8:c.-596G>T (ERCC5) ENSP00000347978.4:n.-596G>T
ENST00000602836.1:c.1364+5868G>T (BIVM-ERCC5)
NM_001204425.1:c.1450+5868G>T (BIVM-ERCC5) NP_001191354.1:n.1450+5868G>T
NM_001204425.2:c.1450+5868G>T (BIVM-ERCC5) NP_001191354.2:n.1450+5868G>T
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