Canonical Allele Identifier: CA7041210

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102858272C>T , CM000675.2:g.102858272C>T	GRCh38
NC_000013.10:g.103510622C>T , CM000675.1:g.103510622C>T	GRCh37
NC_000013.9:g.102308623C>T	NCBI36
NG_007146.1:g.17449C>T , LRG_464:g.17449C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.529-3C>T (ERCC5) MANE Select	NP_000114.3:n.529-3C>T
ENST00000652225.2:c.529-3C>T (ERCC5) MANE Select	ENSP00000498881.2:n.529-3C>T
NM_000123.3:c.529-3C>T , LRG_464t1:c.529-3C>T (ERCC5)	NP_000114.2:n.529-3C>T
NM_001204425.1:c.1891-3C>T (BIVM-ERCC5)	NP_001191354.1:n.1891-3C>T
NM_001204425.2:c.1891-3C>T (BIVM-ERCC5)	NP_001191354.2:n.1891-3C>T
ENST00000355739.8:c.529-3C>T (ERCC5)	ENSP00000347978.4:n.529-3C>T
ENST00000535557.5:c.529-3C>T (ERCC5)	ENSP00000442117.1:n.529-3C>T
ENST00000602836.1:c.1805-3C>T (BIVM-ERCC5)
ENST00000610537.4:c.529-3C>T (ERCC5)	ENSP00000478667.1:n.529-3C>T
ENST00000639132.1:c.1204-3C>T (BIVM-ERCC5)	ENSP00000492684.1:n.1204-3C>T
ENST00000639435.1:c.1891-3C>T (BIVM-ERCC5)	ENSP00000491742.1:n.1891-3C>T
ENST00000651002.1:c.*290-3C>T (ERCC5)	ENSP00000498809.1:n.*290-3C>T
ENST00000651055.1:n.658-3C>T (ERCC5)
ENST00000651281.1:n.897-3C>T (ERCC5)
ENST00000651470.1:c.529-3C>T (ERCC5)	ENSP00000498701.1:n.529-3C>T
ENST00000652613.1:c.25-3C>T (ERCC5)	ENSP00000498357.1:n.25-3C>T
ENST00000682632.1:n.770-3C>T (ERCC5)
ENST00000682869.1:n.1178-3C>T (ERCC5)
ENST00000683246.1:n.1306-3C>T (ERCC5)
ENST00000684184.1:n.1175-3C>T (ERCC5)