Canonical Allele Identifier: CA7041754

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102872363T>C , CM000675.2:g.102872363T>C	GRCh38
NC_000013.10:g.103524713T>C , CM000675.1:g.103524713T>C	GRCh37
NC_000013.9:g.102322714T>C	NCBI36
NG_007146.1:g.31540T>C , LRG_464:g.31540T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.2844T>C (ERCC5) MANE Select	NP_000114.3:p.Phe948=
ENST00000652225.2:c.2844T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Phe948=
NM_000123.3:c.2844T>C , LRG_464t1:c.2844T>C (ERCC5)	NP_000114.2:p.Phe948=
NM_001204425.1:c.4206T>C (BIVM-ERCC5)	NP_001191354.1:p.Phe1402=
NM_001204425.2:c.4206T>C (BIVM-ERCC5)	NP_001191354.2:p.Phe1402=
ENST00000355739.8:c.2844T>C (ERCC5)	ENSP00000347978.4:p.Phe948=
ENST00000375954.1:c.543T>C (ERCC5)	ENSP00000365121.1:p.Phe181=
ENST00000602836.1:c.4120T>C (BIVM-ERCC5)
ENST00000610537.4:c.2841T>C (ERCC5)	ENSP00000478667.1:p.Phe947=
ENST00000639132.1:c.3519T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Phe1173=
ENST00000639435.1:c.4206T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Phe1402=
ENST00000651002.1:c.*2605T>C (ERCC5)	ENSP00000498809.1:n.*2605T>C
ENST00000651055.1:n.2973T>C (ERCC5)
ENST00000651281.1:n.3212T>C (ERCC5)
ENST00000651387.1:n.2328T>C (ERCC5)
ENST00000651470.1:c.*16T>C (ERCC5)	ENSP00000498701.1:n.*16T>C
ENST00000652613.1:c.2340T>C (ERCC5)	ENSP00000498357.1:p.Phe780=
ENST00000682632.1:n.3085T>C (ERCC5)
ENST00000682869.1:n.3493T>C (ERCC5)
ENST00000683246.1:n.3621T>C (ERCC5)
ENST00000683642.1:n.2214T>C (ERCC5)