Canonical Allele Identifier: CA484983708

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1484135998
• gnomAD v3: 13-102875633-T-C
• gnomAD v4: 13-102875633-T-C
• MyVariant Identifiers: chr13:g.103527983T>C (hg19) ; chr13:g.102875633T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875633T>C , CM000675.2:g.102875633T>C	GRCh38
NC_000013.10:g.103527983T>C , CM000675.1:g.103527983T>C	GRCh37
NC_000013.9:g.102325984T>C	NCBI36
NG_007146.1:g.34810T>C , LRG_464:g.34810T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4392T>C (ERCC5)
ENST00000682869.1:n.3940T>C (ERCC5)
ENST00000683246.1:n.4928T>C (ERCC5)
ENST00000683642.1:n.3521T>C (ERCC5)
ENST00000639132.1:c.3966T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1322=
ENST00000639435.1:c.4653T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1551=
ENST00000651002.1:c.*3052T>C (ERCC5)	ENSP00000498809.1:n.*3052T>C
ENST00000651055.1:n.3418T>C (ERCC5)
ENST00000651281.1:n.3659T>C (ERCC5)
ENST00000651387.1:n.2775T>C (ERCC5)
ENST00000651470.1:c.*463T>C (ERCC5)	ENSP00000498701.1:n.*463T>C
ENST00000652225.2:c.3291T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1097=
ENST00000652613.1:c.2787T>C (ERCC5)	ENSP00000498357.1:p.Ser929=
ENST00000355739.8:c.3291T>C (ERCC5)	ENSP00000347978.4:p.Ser1097=
ENST00000375954.1:c.990T>C (ERCC5)	ENSP00000365121.1:p.Ser330=
ENST00000472247.1:n.451T>C (ERCC5)
ENST00000610537.4:c.3288T>C (ERCC5)	ENSP00000478667.1:p.Ser1096=
NM_000123.3:c.3291T>C , LRG_464t1:c.3291T>C (ERCC5)	NP_000114.2:p.Ser1097=
NM_001204425.1:c.4653T>C (BIVM-ERCC5)	NP_001191354.1:p.Ser1551=
NM_000123.4:c.3291T>C (ERCC5) MANE Select	NP_000114.3:p.Ser1097=
NM_001204425.2:c.4653T>C (BIVM-ERCC5)	NP_001191354.2:p.Ser1551=