Canonical Allele Identifier: CA255225542

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1042473707
• gnomAD v2: 13-103515247-T-C
• gnomAD v3: 13-102862897-T-C
• gnomAD v4: 13-102862897-T-C
• MyVariant Identifiers: chr13:g.103515247T>C (hg19) ; chr13:g.102862897T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862897T>C , CM000675.2:g.102862897T>C	GRCh38
NC_000013.10:g.103515247T>C , CM000675.1:g.103515247T>C	GRCh37
NC_000013.9:g.102313248T>C	NCBI36
NG_007146.1:g.22074T>C , LRG_464:g.22074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1989T>C (ERCC5)
ENST00000682869.1:n.2397T>C (ERCC5)
ENST00000683246.1:n.2525T>C (ERCC5)
ENST00000639132.1:c.2423T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Leu808Ser
ENST00000639435.1:c.3110T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1037Ser
ENST00000651002.1:c.*1509T>C (ERCC5)	ENSP00000498809.1:n.*1509T>C
ENST00000651055.1:n.1877T>C (ERCC5)
ENST00000651281.1:n.2116T>C (ERCC5)
ENST00000651387.1:n.1232T>C (ERCC5)
ENST00000651470.1:c.1748T>C (ERCC5)	ENSP00000498701.1:p.Leu583Ser
ENST00000652225.2:c.1748T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Leu583Ser
ENST00000652613.1:c.1244T>C (ERCC5)	ENSP00000498357.1:p.Leu415Ser
ENST00000355739.8:c.1748T>C (ERCC5)	ENSP00000347978.4:p.Leu583Ser
ENST00000602836.1:c.3024T>C (BIVM-ERCC5)
ENST00000610537.4:c.1748T>C (ERCC5)	ENSP00000478667.1:p.Leu583Ser
NM_000123.3:c.1748T>C , LRG_464t1:c.1748T>C (ERCC5)	NP_000114.2:p.Leu583Ser
NM_001204425.1:c.3110T>C (BIVM-ERCC5)	NP_001191354.1:p.Leu1037Ser
NM_000123.4:c.1748T>C (ERCC5) MANE Select	NP_000114.3:p.Leu583Ser
NM_001204425.2:c.3110T>C (BIVM-ERCC5)	NP_001191354.2:p.Leu1037Ser