Canonical Allele Identifier: CA388674962

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875587-A-C
• MyVariant Identifiers: chr13:g.103527937A>C (hg19) ; chr13:g.102875587A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875587A>C , CM000675.2:g.102875587A>C	GRCh38
NC_000013.10:g.103527937A>C , CM000675.1:g.103527937A>C	GRCh37
NC_000013.9:g.102325938A>C	NCBI36
NG_007146.1:g.34764A>C , LRG_464:g.34764A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4346A>C (ERCC5)
ENST00000682869.1:n.3894A>C (ERCC5)
ENST00000683246.1:n.4882A>C (ERCC5)
ENST00000683642.1:n.3475A>C (ERCC5)
ENST00000639132.1:c.3920A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Asn1307Thr
ENST00000639435.1:c.4607A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Asn1536Thr
ENST00000651002.1:c.*3006A>C (ERCC5)	ENSP00000498809.1:n.*3006A>C
ENST00000651055.1:n.3372A>C (ERCC5)
ENST00000651281.1:n.3613A>C (ERCC5)
ENST00000651387.1:n.2729A>C (ERCC5)
ENST00000651470.1:c.*417A>C (ERCC5)	ENSP00000498701.1:n.*417A>C
ENST00000652225.2:c.3245A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Asn1082Thr
ENST00000652613.1:c.2741A>C (ERCC5)	ENSP00000498357.1:p.Asn914Thr
ENST00000355739.8:c.3245A>C (ERCC5)	ENSP00000347978.4:p.Asn1082Thr
ENST00000375954.1:c.944A>C (ERCC5)	ENSP00000365121.1:p.Asn315Thr
ENST00000472247.1:n.405A>C (ERCC5)
ENST00000610537.4:c.3242A>C (ERCC5)	ENSP00000478667.1:p.Asn1081Thr
NM_000123.3:c.3245A>C , LRG_464t1:c.3245A>C (ERCC5)	NP_000114.2:p.Asn1082Thr
NM_001204425.1:c.4607A>C (BIVM-ERCC5)	NP_001191354.1:p.Asn1536Thr
NM_000123.4:c.3245A>C (ERCC5) MANE Select	NP_000114.3:p.Asn1082Thr
NM_001204425.2:c.4607A>C (BIVM-ERCC5)	NP_001191354.2:p.Asn1536Thr