Canonical Allele Identifier: CA7041627

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 883461
• ClinVar RCV Id: RCV001113896 ; RCV001555508 ; RCV002469347
• dbSNP Id: rs751772171
• ExAC: 13:103519045 G / A
• gnomAD v2: 13-103519045-G-A
• gnomAD v3: 13-102866695-G-A
• gnomAD v4: 13-102866695-G-A
• MyVariant Identifiers: chr13:g.103519045G>A (hg19) ; chr13:g.102866695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866695G>A , CM000675.2:g.102866695G>A	GRCh38
NC_000013.10:g.103519045G>A , CM000675.1:g.103519045G>A	GRCh37
NC_000013.9:g.102317046G>A	NCBI36
NG_007146.1:g.25872G>A , LRG_464:g.25872G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2624G>A (ERCC5)
ENST00000682869.1:n.3032G>A (ERCC5)
ENST00000683246.1:n.3160G>A (ERCC5)
ENST00000639132.1:c.3058G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1020Thr
ENST00000639435.1:c.3745G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1249Thr
ENST00000651002.1:c.*2144G>A (ERCC5)	ENSP00000498809.1:n.*2144G>A
ENST00000651055.1:n.2512G>A (ERCC5)
ENST00000651281.1:n.2751G>A (ERCC5)
ENST00000651387.1:n.1867G>A (ERCC5)
ENST00000651470.1:c.2383G>A (ERCC5)	ENSP00000498701.1:p.Ala795Thr
ENST00000652225.2:c.2383G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ala795Thr
ENST00000652613.1:c.1879G>A (ERCC5)	ENSP00000498357.1:p.Ala627Thr
ENST00000355739.8:c.2383G>A (ERCC5)	ENSP00000347978.4:p.Ala795Thr
ENST00000375954.1:c.82G>A (ERCC5)	ENSP00000365121.1:p.Ala28Thr
ENST00000481099.1:n.503G>A (ERCC5)
ENST00000602836.1:c.3659G>A (BIVM-ERCC5)
ENST00000610537.4:c.2383G>A (ERCC5)	ENSP00000478667.1:p.Ala795Thr
NM_000123.3:c.2383G>A , LRG_464t1:c.2383G>A (ERCC5)	NP_000114.2:p.Ala795Thr
NM_001204425.1:c.3745G>A (BIVM-ERCC5)	NP_001191354.1:p.Ala1249Thr
NM_000123.4:c.2383G>A (ERCC5) MANE Select	NP_000114.3:p.Ala795Thr
NM_001204425.2:c.3745G>A (BIVM-ERCC5)	NP_001191354.2:p.Ala1249Thr