Canonical Allele Identifier: CA2623613116
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

gnomAD v4: 13-102845869-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845869C>T , CM000675.2:g.102845869C>T GRCh38
NC_000013.10:g.103498219C>T , CM000675.1:g.103498219C>T GRCh37
NC_000013.9:g.102296220C>T NCBI36
NG_007146.1:g.5046C>T , LRG_464:g.5046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-7888C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3249C>T (BIVM-ERCC5)
ENST00000639132.1:c.763+6066C>T (BIVM-ERCC5) ENSP00000492684.1:n.763+6066C>T
ENST00000639435.1:c.1450+6066C>T (BIVM-ERCC5) ENSP00000491742.1:n.1450+6066C>T
ENST00000651002.1:c.-398C>T (ERCC5) ENSP00000498809.1:n.-398C>T
ENST00000652613.1:c.-895C>T (ERCC5) ENSP00000498357.1:n.-895C>T
ENST00000355739.8:c.-398C>T (ERCC5) ENSP00000347978.4:n.-398C>T
ENST00000535557.5:c.-398C>T (ERCC5) ENSP00000442117.1:n.-398C>T
ENST00000602836.1:c.1364+6066C>T (BIVM-ERCC5)
NM_000123.3:c.-398C>T , LRG_464t1:c.-398C>T (ERCC5) NP_000114.2:n.-398C>T
NM_001204425.1:c.1450+6066C>T (BIVM-ERCC5) NP_001191354.1:n.1450+6066C>T
NM_001204425.2:c.1450+6066C>T (BIVM-ERCC5) NP_001191354.2:n.1450+6066C>T
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