Canonical Allele Identifier: CA388675120

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875662-G-A
• MyVariant Identifiers: chr13:g.103528012G>A (hg19) ; chr13:g.102875662G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875662G>A , CM000675.2:g.102875662G>A	GRCh38
NC_000013.10:g.103528012G>A , CM000675.1:g.103528012G>A	GRCh37
NC_000013.9:g.102326013G>A	NCBI36
NG_007146.1:g.34839G>A , LRG_464:g.34839G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4421G>A (ERCC5)
ENST00000682869.1:n.3969G>A (ERCC5)
ENST00000683246.1:n.4957G>A (ERCC5)
ENST00000683642.1:n.3550G>A (ERCC5)
ENST00000639132.1:c.3995G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1332Asn
ENST00000639435.1:c.4682G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1561Asn
ENST00000651002.1:c.*3081G>A (ERCC5)	ENSP00000498809.1:n.*3081G>A
ENST00000651055.1:n.3447G>A (ERCC5)
ENST00000651281.1:n.3688G>A (ERCC5)
ENST00000651387.1:n.2804G>A (ERCC5)
ENST00000651470.1:c.*492G>A (ERCC5)	ENSP00000498701.1:n.*492G>A
ENST00000652225.2:c.3320G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1107Asn
ENST00000652613.1:c.2816G>A (ERCC5)	ENSP00000498357.1:p.Ser939Asn
ENST00000355739.8:c.3320G>A (ERCC5)	ENSP00000347978.4:p.Ser1107Asn
ENST00000375954.1:c.1019G>A (ERCC5)	ENSP00000365121.1:p.Ser340Asn
ENST00000472247.1:n.480G>A (ERCC5)
ENST00000610537.4:c.3317G>A (ERCC5)	ENSP00000478667.1:p.Ser1106Asn
NM_000123.3:c.3320G>A , LRG_464t1:c.3320G>A (ERCC5)	NP_000114.2:p.Ser1107Asn
NM_001204425.1:c.4682G>A (BIVM-ERCC5)	NP_001191354.1:p.Ser1561Asn
NM_000123.4:c.3320G>A (ERCC5) MANE Select	NP_000114.3:p.Ser1107Asn
NM_001204425.2:c.4682G>A (BIVM-ERCC5)	NP_001191354.2:p.Ser1561Asn