Canonical Allele Identifier: CA7041413

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862609C>T , CM000675.2:g.102862609C>T	GRCh38
NC_000013.10:g.103514959C>T , CM000675.1:g.103514959C>T	GRCh37
NC_000013.9:g.102312960C>T	NCBI36
NG_007146.1:g.21786C>T , LRG_464:g.21786C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.1460C>T (ERCC5) MANE Select	NP_000114.3:p.Pro487Leu
ENST00000652225.2:c.1460C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Pro487Leu
NM_000123.3:c.1460C>T , LRG_464t1:c.1460C>T (ERCC5)	NP_000114.2:p.Pro487Leu
NM_001204425.1:c.2822C>T (BIVM-ERCC5)	NP_001191354.1:p.Pro941Leu
NM_001204425.2:c.2822C>T (BIVM-ERCC5)	NP_001191354.2:p.Pro941Leu
ENST00000355739.8:c.1460C>T (ERCC5)	ENSP00000347978.4:p.Pro487Leu
ENST00000602836.1:c.2736C>T (BIVM-ERCC5)
ENST00000610537.4:c.1460C>T (ERCC5)	ENSP00000478667.1:p.Pro487Leu
ENST00000639132.1:c.2135C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Pro712Leu
ENST00000639435.1:c.2822C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Pro941Leu
ENST00000651002.1:c.*1221C>T (ERCC5)	ENSP00000498809.1:n.*1221C>T
ENST00000651055.1:n.1589C>T (ERCC5)
ENST00000651281.1:n.1828C>T (ERCC5)
ENST00000651387.1:n.944C>T (ERCC5)
ENST00000651470.1:c.1460C>T (ERCC5)	ENSP00000498701.1:p.Pro487Leu
ENST00000652613.1:c.956C>T (ERCC5)	ENSP00000498357.1:p.Pro319Leu
ENST00000682632.1:n.1701C>T (ERCC5)
ENST00000682869.1:n.2109C>T (ERCC5)
ENST00000683246.1:n.2237C>T (ERCC5)