Canonical Allele Identifier: CA10633790

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 310910
• ClinVar RCV Id: RCV000307857 ; RCV001653523
• dbSNP Id: rs2296148
• gnomAD v2: 13-103498545-C-T
• gnomAD v3: 13-102846195-C-T
• gnomAD v4: 13-102846195-C-T
• MyVariant Identifiers: chr13:g.103498545C>T (hg19) ; chr13:g.102846195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846195C>T , CM000675.2:g.102846195C>T	GRCh38
NC_000013.10:g.103498545C>T , CM000675.1:g.103498545C>T	GRCh37
NC_000013.9:g.102296546C>T	NCBI36
NG_007146.1:g.5372C>T , LRG_464:g.5372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.170C>T (ERCC5)
ENST00000682869.1:n.163C>T (ERCC5)
ENST00000683246.1:n.291C>T (ERCC5)
ENST00000684184.1:n.160C>T (ERCC5)
ENST00000638434.1:c.363-7562C>T (BIVM-ERCC5)
ENST00000639118.1:c.363-2923C>T (BIVM-ERCC5)
ENST00000639132.1:c.764-5923C>T (BIVM-ERCC5)	ENSP00000492684.1:n.764-5923C>T
ENST00000639435.1:c.1451-5923C>T (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5923C>T
ENST00000651002.1:c.-72C>T (ERCC5)	ENSP00000498809.1:n.-72C>T
ENST00000652225.2:c.-72C>T (ERCC5) MANE Select	ENSP00000498881.2:n.-72C>T
ENST00000652613.1:c.-569C>T (ERCC5)	ENSP00000498357.1:n.-569C>T
ENST00000355739.8:c.-72C>T (ERCC5)	ENSP00000347978.4:n.-72C>T
ENST00000375958.3:n.84C>T (ERCC5)
ENST00000472151.1:c.-72C>T (ERCC5)	ENSP00000436083.1:n.-72C>T
ENST00000535557.5:c.-72C>T (ERCC5)	ENSP00000442117.1:n.-72C>T
ENST00000602836.1:c.1365-5923C>T (BIVM-ERCC5)
NM_000123.3:c.-72C>T , LRG_464t1:c.-72C>T (ERCC5)	NP_000114.2:n.-72C>T
NM_001204425.1:c.1451-5923C>T (BIVM-ERCC5)	NP_001191354.1:n.1451-5923C>T
NM_000123.4:c.-72C>T (ERCC5) MANE Select	NP_000114.3:n.-72C>T
NM_001204425.2:c.1451-5923C>T (BIVM-ERCC5)	NP_001191354.2:n.1451-5923C>T