Canonical Allele Identifier: CA388675038

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875625-G-A
• MyVariant Identifiers: chr13:g.103527975G>A (hg19) ; chr13:g.102875625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875625G>A , CM000675.2:g.102875625G>A	GRCh38
NC_000013.10:g.103527975G>A , CM000675.1:g.103527975G>A	GRCh37
NC_000013.9:g.102325976G>A	NCBI36
NG_007146.1:g.34802G>A , LRG_464:g.34802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4384G>A (ERCC5)
ENST00000682869.1:n.3932G>A (ERCC5)
ENST00000683246.1:n.4920G>A (ERCC5)
ENST00000683642.1:n.3513G>A (ERCC5)
ENST00000639132.1:c.3958G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Glu1320Lys
ENST00000639435.1:c.4645G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Glu1549Lys
ENST00000651002.1:c.*3044G>A (ERCC5)	ENSP00000498809.1:n.*3044G>A
ENST00000651055.1:n.3410G>A (ERCC5)
ENST00000651281.1:n.3651G>A (ERCC5)
ENST00000651387.1:n.2767G>A (ERCC5)
ENST00000651470.1:c.*455G>A (ERCC5)	ENSP00000498701.1:n.*455G>A
ENST00000652225.2:c.3283G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Glu1095Lys
ENST00000652613.1:c.2779G>A (ERCC5)	ENSP00000498357.1:p.Glu927Lys
ENST00000355739.8:c.3283G>A (ERCC5)	ENSP00000347978.4:p.Glu1095Lys
ENST00000375954.1:c.982G>A (ERCC5)	ENSP00000365121.1:p.Glu328Lys
ENST00000472247.1:n.443G>A (ERCC5)
ENST00000610537.4:c.3280G>A (ERCC5)	ENSP00000478667.1:p.Glu1094Lys
NM_000123.3:c.3283G>A , LRG_464t1:c.3283G>A (ERCC5)	NP_000114.2:p.Glu1095Lys
NM_001204425.1:c.4645G>A (BIVM-ERCC5)	NP_001191354.1:p.Glu1549Lys
NM_000123.4:c.3283G>A (ERCC5) MANE Select	NP_000114.3:p.Glu1095Lys
NM_001204425.2:c.4645G>A (BIVM-ERCC5)	NP_001191354.2:p.Glu1549Lys