Canonical Allele Identifier: CA10643659

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 310909
• ClinVar RCV Id: RCV000404486 ; RCV001612988
• dbSNP Id: rs3218736
• gnomAD v2: 13-103498543-G-A
• gnomAD v3: 13-102846193-G-A
• gnomAD v4: 13-102846193-G-A
• MyVariant Identifiers: chr13:g.103498543G>A (hg19) ; chr13:g.102846193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846193G>A , CM000675.2:g.102846193G>A	GRCh38
NC_000013.10:g.103498543G>A , CM000675.1:g.103498543G>A	GRCh37
NC_000013.9:g.102296544G>A	NCBI36
NG_007146.1:g.5370G>A , LRG_464:g.5370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.168G>A (ERCC5)
ENST00000682869.1:n.161G>A (ERCC5)
ENST00000683246.1:n.289G>A (ERCC5)
ENST00000684184.1:n.158G>A (ERCC5)
ENST00000638434.1:c.363-7564G>A (BIVM-ERCC5)
ENST00000639118.1:c.363-2925G>A (BIVM-ERCC5)
ENST00000639132.1:c.764-5925G>A (BIVM-ERCC5)	ENSP00000492684.1:n.764-5925G>A
ENST00000639435.1:c.1451-5925G>A (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5925G>A
ENST00000651002.1:c.-74G>A (ERCC5)	ENSP00000498809.1:n.-74G>A
ENST00000652225.2:c.-74G>A (ERCC5) MANE Select	ENSP00000498881.2:n.-74G>A
ENST00000652613.1:c.-571G>A (ERCC5)	ENSP00000498357.1:n.-571G>A
ENST00000355739.8:c.-74G>A (ERCC5)	ENSP00000347978.4:n.-74G>A
ENST00000375958.3:n.82G>A (ERCC5)
ENST00000472151.1:c.-74G>A (ERCC5)	ENSP00000436083.1:n.-74G>A
ENST00000535557.5:c.-74G>A (ERCC5)	ENSP00000442117.1:n.-74G>A
ENST00000602836.1:c.1365-5925G>A (BIVM-ERCC5)
NM_000123.3:c.-74G>A , LRG_464t1:c.-74G>A (ERCC5)	NP_000114.2:n.-74G>A
NM_001204425.1:c.1451-5925G>A (BIVM-ERCC5)	NP_001191354.1:n.1451-5925G>A
NM_000123.4:c.-74G>A (ERCC5) MANE Select	NP_000114.3:n.-74G>A
NM_001204425.2:c.1451-5925G>A (BIVM-ERCC5)	NP_001191354.2:n.1451-5925G>A