Canonical Allele Identifier: CA2623613053
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

gnomAD v4: 13-102845850-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845850G>A , CM000675.2:g.102845850G>A GRCh38
NC_000013.10:g.103498200G>A , CM000675.1:g.103498200G>A GRCh37
NC_000013.9:g.102296201G>A NCBI36
NG_007146.1:g.5027G>A , LRG_464:g.5027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000638434.1:c.363-7907G>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3268G>A (BIVM-ERCC5)
ENST00000639132.1:c.763+6047G>A (BIVM-ERCC5) ENSP00000492684.1:n.763+6047G>A
ENST00000639435.1:c.1450+6047G>A (BIVM-ERCC5) ENSP00000491742.1:n.1450+6047G>A
ENST00000651002.1:c.-417G>A (ERCC5) ENSP00000498809.1:n.-417G>A
ENST00000355739.8:c.-417G>A (ERCC5) ENSP00000347978.4:n.-417G>A
ENST00000535557.5:c.-417G>A (ERCC5) ENSP00000442117.1:n.-417G>A
ENST00000602836.1:c.1364+6047G>A (BIVM-ERCC5)
NM_000123.3:c.-417G>A , LRG_464t1:c.-417G>A (ERCC5) NP_000114.2:n.-417G>A
NM_001204425.1:c.1450+6047G>A (BIVM-ERCC5) NP_001191354.1:n.1450+6047G>A
NM_001204425.2:c.1450+6047G>A (BIVM-ERCC5) NP_001191354.2:n.1450+6047G>A
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