Canonical Allele Identifier: CA2575451348

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102856016-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856016A>C , CM000675.2:g.102856016A>C	GRCh38
NC_000013.10:g.103508366A>C , CM000675.1:g.103508366A>C	GRCh37
NC_000013.9:g.102306367A>C	NCBI36
NG_007146.1:g.15193A>C , LRG_464:g.15193A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.709-36A>C (ERCC5)
ENST00000682869.1:n.1117-36A>C (ERCC5)
ENST00000683246.1:n.1245-36A>C (ERCC5)
ENST00000684184.1:n.1114-36A>C (ERCC5)
ENST00000638434.1:c.566-36A>C (BIVM-ERCC5)
ENST00000639132.1:c.1143-36A>C (BIVM-ERCC5)	ENSP00000492684.1:n.1143-36A>C
ENST00000639435.1:c.1830-36A>C (BIVM-ERCC5)	ENSP00000491742.1:n.1830-36A>C
ENST00000651002.1:c.*229-36A>C (ERCC5)	ENSP00000498809.1:n.*229-36A>C
ENST00000651055.1:n.597-36A>C (ERCC5)
ENST00000651281.1:n.836-36A>C (ERCC5)
ENST00000651470.1:c.468-36A>C (ERCC5)	ENSP00000498701.1:n.468-36A>C
ENST00000652225.2:c.468-36A>C (ERCC5) MANE Select	ENSP00000498881.2:n.468-36A>C
ENST00000652613.1:c.-37-36A>C (ERCC5)	ENSP00000498357.1:n.-37-36A>C
ENST00000355739.8:c.468-36A>C (ERCC5)	ENSP00000347978.4:n.468-36A>C
ENST00000535557.5:c.468-36A>C (ERCC5)	ENSP00000442117.1:n.468-36A>C
ENST00000602836.1:c.1744-36A>C (BIVM-ERCC5)
ENST00000610537.4:c.468-36A>C (ERCC5)	ENSP00000478667.1:n.468-36A>C
NM_000123.3:c.468-36A>C , LRG_464t1:c.468-36A>C (ERCC5)	NP_000114.2:n.468-36A>C
NM_001204425.1:c.1830-36A>C (BIVM-ERCC5)	NP_001191354.1:n.1830-36A>C
NM_000123.4:c.468-36A>C (ERCC5) MANE Select	NP_000114.3:n.468-36A>C
NM_001204425.2:c.1830-36A>C (BIVM-ERCC5)	NP_001191354.2:n.1830-36A>C