Canonical Allele Identifier: CA388574152

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1299303065
• gnomAD v2: 13-103515244-G-A
• gnomAD v3: 13-102862894-G-A
• gnomAD v4: 13-102862894-G-A
• MyVariant Identifiers: chr13:g.103515244G>A (hg19) ; chr13:g.102862894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862894G>A , CM000675.2:g.102862894G>A	GRCh38
NC_000013.10:g.103515244G>A , CM000675.1:g.103515244G>A	GRCh37
NC_000013.9:g.102313245G>A	NCBI36
NG_007146.1:g.22071G>A , LRG_464:g.22071G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1986G>A (ERCC5)
ENST00000682869.1:n.2394G>A (ERCC5)
ENST00000683246.1:n.2522G>A (ERCC5)
ENST00000639132.1:c.2420G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ser807Asn
ENST00000639435.1:c.3107G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1036Asn
ENST00000651002.1:c.*1506G>A (ERCC5)	ENSP00000498809.1:n.*1506G>A
ENST00000651055.1:n.1874G>A (ERCC5)
ENST00000651281.1:n.2113G>A (ERCC5)
ENST00000651387.1:n.1229G>A (ERCC5)
ENST00000651470.1:c.1745G>A (ERCC5)	ENSP00000498701.1:p.Ser582Asn
ENST00000652225.2:c.1745G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ser582Asn
ENST00000652613.1:c.1241G>A (ERCC5)	ENSP00000498357.1:p.Ser414Asn
ENST00000355739.8:c.1745G>A (ERCC5)	ENSP00000347978.4:p.Ser582Asn
ENST00000602836.1:c.3021G>A (BIVM-ERCC5)
ENST00000610537.4:c.1745G>A (ERCC5)	ENSP00000478667.1:p.Ser582Asn
NM_000123.3:c.1745G>A , LRG_464t1:c.1745G>A (ERCC5)	NP_000114.2:p.Ser582Asn
NM_001204425.1:c.3107G>A (BIVM-ERCC5)	NP_001191354.1:p.Ser1036Asn
NM_000123.4:c.1745G>A (ERCC5) MANE Select	NP_000114.3:p.Ser582Asn
NM_001204425.2:c.3107G>A (BIVM-ERCC5)	NP_001191354.2:p.Ser1036Asn