Canonical Allele Identifier: CA13837355

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 1281292
• ClinVar RCV Id: RCV001691424
• dbSNP Id: rs3818356
• gnomAD v2: 13-103519470-G-A
• gnomAD v3: 13-102867120-G-A
• gnomAD v4: 13-102867120-G-A
• MyVariant Identifiers: chr13:g.103519470G>A (hg19) ; chr13:g.102867120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102867120G>A , CM000675.2:g.102867120G>A	GRCh38
NC_000013.10:g.103519470G>A , CM000675.1:g.103519470G>A	GRCh37
NC_000013.9:g.102317471G>A	NCBI36
NG_007146.1:g.26297G>A , LRG_464:g.26297G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2774+275G>A (ERCC5)
ENST00000682869.1:n.3182+275G>A (ERCC5)
ENST00000683246.1:n.3310+275G>A (ERCC5)
ENST00000639132.1:c.3208+275G>A (BIVM-ERCC5)	ENSP00000492684.1:n.3208+275G>A
ENST00000639435.1:c.3895+275G>A (BIVM-ERCC5)	ENSP00000491742.1:n.3895+275G>A
ENST00000651002.1:c.*2294+275G>A (ERCC5)	ENSP00000498809.1:n.*2294+275G>A
ENST00000651055.1:n.2662+275G>A (ERCC5)
ENST00000651281.1:n.2901+275G>A (ERCC5)
ENST00000651387.1:n.2017+275G>A (ERCC5)
ENST00000651470.1:c.2533+275G>A (ERCC5)	ENSP00000498701.1:n.2533+275G>A
ENST00000652225.2:c.2533+275G>A (ERCC5) MANE Select	ENSP00000498881.2:n.2533+275G>A
ENST00000652613.1:c.2029+275G>A (ERCC5)	ENSP00000498357.1:n.2029+275G>A
ENST00000355739.8:c.2533+275G>A (ERCC5)	ENSP00000347978.4:n.2533+275G>A
ENST00000375954.1:c.232+275G>A (ERCC5)	ENSP00000365121.1:n.232+275G>A
ENST00000481099.1:n.653+275G>A (ERCC5)
ENST00000602836.1:c.3809+275G>A (BIVM-ERCC5)
ENST00000610537.4:c.2533+275G>A (ERCC5)	ENSP00000478667.1:n.2533+275G>A
NM_000123.3:c.2533+275G>A , LRG_464t1:c.2533+275G>A (ERCC5)	NP_000114.2:n.2533+275G>A
NM_001204425.1:c.3895+275G>A (BIVM-ERCC5)	NP_001191354.1:n.3895+275G>A
NM_000123.4:c.2533+275G>A (ERCC5) MANE Select	NP_000114.3:n.2533+275G>A
NM_001204425.2:c.3895+275G>A (BIVM-ERCC5)	NP_001191354.2:n.3895+275G>A