Canonical Allele Identifier: CA388674907

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543425
• MyVariant Identifiers: chr13:g.103527911G>C (hg19) ; chr13:g.102875561G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875561G>C , CM000675.2:g.102875561G>C	GRCh38
NC_000013.10:g.103527911G>C , CM000675.1:g.103527911G>C	GRCh37
NC_000013.9:g.102325912G>C	NCBI36
NG_007146.1:g.34738G>C , LRG_464:g.34738G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4320G>C (ERCC5)
ENST00000682869.1:n.3868G>C (ERCC5)
ENST00000683246.1:n.4856G>C (ERCC5)
ENST00000683642.1:n.3449G>C (ERCC5)
ENST00000639132.1:c.3894G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Lys1298Asn
ENST00000639435.1:c.4581G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Lys1527Asn
ENST00000651002.1:c.*2980G>C (ERCC5)	ENSP00000498809.1:n.*2980G>C
ENST00000651055.1:n.3346G>C (ERCC5)
ENST00000651281.1:n.3587G>C (ERCC5)
ENST00000651387.1:n.2703G>C (ERCC5)
ENST00000651470.1:c.*391G>C (ERCC5)	ENSP00000498701.1:n.*391G>C
ENST00000652225.2:c.3219G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Lys1073Asn
ENST00000652613.1:c.2715G>C (ERCC5)	ENSP00000498357.1:p.Lys905Asn
ENST00000355739.8:c.3219G>C (ERCC5)	ENSP00000347978.4:p.Lys1073Asn
ENST00000375954.1:c.918G>C (ERCC5)	ENSP00000365121.1:p.Lys306Asn
ENST00000472247.1:n.379G>C (ERCC5)
ENST00000610537.4:c.3216G>C (ERCC5)	ENSP00000478667.1:p.Lys1072Asn
NM_000123.3:c.3219G>C , LRG_464t1:c.3219G>C (ERCC5)	NP_000114.2:p.Lys1073Asn
NM_001204425.1:c.4581G>C (BIVM-ERCC5)	NP_001191354.1:p.Lys1527Asn
NM_000123.4:c.3219G>C (ERCC5) MANE Select	NP_000114.3:p.Lys1073Asn
NM_001204425.2:c.4581G>C (BIVM-ERCC5)	NP_001191354.2:p.Lys1527Asn