Canonical Allele Identifier: CA7041860

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 882722
• ClinVar RCV Id: RCV001112636
• dbSNP Id: rs372662617
• ExAC: 13:103527944 C / T
• gnomAD v2: 13-103527944-C-T
• gnomAD v3: 13-102875594-C-T
• gnomAD v4: 13-102875594-C-T
• MyVariant Identifiers: chr13:g.103527944C>T (hg19) ; chr13:g.102875594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875594C>T , CM000675.2:g.102875594C>T	GRCh38
NC_000013.10:g.103527944C>T , CM000675.1:g.103527944C>T	GRCh37
NC_000013.9:g.102325945C>T	NCBI36
NG_007146.1:g.34771C>T , LRG_464:g.34771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4353C>T (ERCC5)
ENST00000682869.1:n.3901C>T (ERCC5)
ENST00000683246.1:n.4889C>T (ERCC5)
ENST00000683642.1:n.3482C>T (ERCC5)
ENST00000639132.1:c.3927C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Cys1309=
ENST00000639435.1:c.4614C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Cys1538=
ENST00000651002.1:c.*3013C>T (ERCC5)	ENSP00000498809.1:n.*3013C>T
ENST00000651055.1:n.3379C>T (ERCC5)
ENST00000651281.1:n.3620C>T (ERCC5)
ENST00000651387.1:n.2736C>T (ERCC5)
ENST00000651470.1:c.*424C>T (ERCC5)	ENSP00000498701.1:n.*424C>T
ENST00000652225.2:c.3252C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Cys1084=
ENST00000652613.1:c.2748C>T (ERCC5)	ENSP00000498357.1:p.Cys916=
ENST00000355739.8:c.3252C>T (ERCC5)	ENSP00000347978.4:p.Cys1084=
ENST00000375954.1:c.951C>T (ERCC5)	ENSP00000365121.1:p.Cys317=
ENST00000472247.1:n.412C>T (ERCC5)
ENST00000610537.4:c.3249C>T (ERCC5)	ENSP00000478667.1:p.Cys1083=
NM_000123.3:c.3252C>T , LRG_464t1:c.3252C>T (ERCC5)	NP_000114.2:p.Cys1084=
NM_001204425.1:c.4614C>T (BIVM-ERCC5)	NP_001191354.1:p.Cys1538=
NM_000123.4:c.3252C>T (ERCC5) MANE Select	NP_000114.3:p.Cys1084=
NM_001204425.2:c.4614C>T (BIVM-ERCC5)	NP_001191354.2:p.Cys1538=