Canonical Allele Identifier: CA10654502
Gene: BIVM-ERCC5 HGNC NCBI
ERCC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 369032
ClinVar RCV Id: RCV000293815 RCV001643128
dbSNP Id: rs4150248
gnomAD v2: 13-103498180-C-A
gnomAD v3: 13-102845830-C-A
gnomAD v4: 13-102845830-C-A
MyVariant Identifiers: chr13:g.103498180C>A (hg19) chr13:g.102845830C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.102845830C>A , CM000675.2:g.102845830C>A GRCh38
NC_000013.10:g.103498180C>A , CM000675.1:g.103498180C>A GRCh37
NC_000013.9:g.102296181C>A NCBI36
NG_007146.1:g.5007C>A , LRG_464:g.5007C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000638434.1:c.363-7927C>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3288C>A (BIVM-ERCC5)
ENST00000639132.1:c.763+6027C>A (BIVM-ERCC5) ENSP00000492684.1:n.763+6027C>A
ENST00000639435.1:c.1450+6027C>A (BIVM-ERCC5) ENSP00000491742.1:n.1450+6027C>A
ENST00000355739.8:c.-437C>A (ERCC5) ENSP00000347978.4:n.-437C>A
ENST00000602836.1:c.1364+6027C>A (BIVM-ERCC5)
NM_001204425.1:c.1450+6027C>A (BIVM-ERCC5) NP_001191354.1:n.1450+6027C>A
NM_001204425.2:c.1450+6027C>A (BIVM-ERCC5) NP_001191354.2:n.1450+6027C>A
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