Canonical Allele Identifier: CA388569351

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103508448A>C (hg19) ; chr13:g.102856098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856098A>C , CM000675.2:g.102856098A>C	GRCh38
NC_000013.10:g.103508448A>C , CM000675.1:g.103508448A>C	GRCh37
NC_000013.9:g.102306449A>C	NCBI36
NG_007146.1:g.15275A>C , LRG_464:g.15275A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.755A>C (ERCC5)
ENST00000682869.1:n.1163A>C (ERCC5)
ENST00000683246.1:n.1291A>C (ERCC5)
ENST00000684184.1:n.1160A>C (ERCC5)
ENST00000638434.1:c.612A>C (BIVM-ERCC5)
ENST00000639132.1:c.1189A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Lys397Gln
ENST00000639435.1:c.1876A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Lys626Gln
ENST00000651002.1:c.*275A>C (ERCC5)	ENSP00000498809.1:n.*275A>C
ENST00000651055.1:n.643A>C (ERCC5)
ENST00000651281.1:n.882A>C (ERCC5)
ENST00000651470.1:c.514A>C (ERCC5)	ENSP00000498701.1:p.Lys172Gln
ENST00000652225.2:c.514A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Lys172Gln
ENST00000652613.1:c.10A>C (ERCC5)	ENSP00000498357.1:p.Lys4Gln
ENST00000355739.8:c.514A>C (ERCC5)	ENSP00000347978.4:p.Lys172Gln
ENST00000535557.5:c.514A>C (ERCC5)	ENSP00000442117.1:p.Lys172Gln
ENST00000602836.1:c.1790A>C (BIVM-ERCC5)
ENST00000610537.4:c.514A>C (ERCC5)	ENSP00000478667.1:p.Lys172Gln
NM_000123.3:c.514A>C , LRG_464t1:c.514A>C (ERCC5)	NP_000114.2:p.Lys172Gln
NM_001204425.1:c.1876A>C (BIVM-ERCC5)	NP_001191354.1:p.Lys626Gln
NM_000123.4:c.514A>C (ERCC5) MANE Select	NP_000114.3:p.Lys172Gln
NM_001204425.2:c.1876A>C (BIVM-ERCC5)	NP_001191354.2:p.Lys626Gln