Canonical Allele Identifier: CA7041505

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102865661G>A , CM000675.2:g.102865661G>A	GRCh38
NC_000013.10:g.103518011G>A , CM000675.1:g.103518011G>A	GRCh37
NC_000013.9:g.102316012G>A	NCBI36
NG_007146.1:g.24838G>A , LRG_464:g.24838G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000123.4:c.1955-6G>A (ERCC5) MANE Select	NP_000114.3:n.1955-6G>A
ENST00000652225.2:c.1955-6G>A (ERCC5) MANE Select	ENSP00000498881.2:n.1955-6G>A
NM_000123.3:c.1955-6G>A , LRG_464t1:c.1955-6G>A (ERCC5)	NP_000114.2:n.1955-6G>A
NM_001204425.1:c.3317-6G>A (BIVM-ERCC5)	NP_001191354.1:n.3317-6G>A
NM_001204425.2:c.3317-6G>A (BIVM-ERCC5)	NP_001191354.2:n.3317-6G>A
ENST00000355739.8:c.1955-6G>A (ERCC5)	ENSP00000347978.4:n.1955-6G>A
ENST00000375954.1:c.-703G>A (ERCC5)	ENSP00000365121.1:n.-703G>A
ENST00000602836.1:c.3231-6G>A (BIVM-ERCC5)
ENST00000610537.4:c.1955-6G>A (ERCC5)	ENSP00000478667.1:n.1955-6G>A
ENST00000639132.1:c.2630-6G>A (BIVM-ERCC5)	ENSP00000492684.1:n.2630-6G>A
ENST00000639435.1:c.3317-6G>A (BIVM-ERCC5)	ENSP00000491742.1:n.3317-6G>A
ENST00000651002.1:c.*1716-6G>A (ERCC5)	ENSP00000498809.1:n.*1716-6G>A
ENST00000651055.1:n.2084-6G>A (ERCC5)
ENST00000651281.1:n.2323-6G>A (ERCC5)
ENST00000651387.1:n.1439-6G>A (ERCC5)
ENST00000651470.1:c.1955-6G>A (ERCC5)	ENSP00000498701.1:n.1955-6G>A
ENST00000652613.1:c.1451-6G>A (ERCC5)	ENSP00000498357.1:n.1451-6G>A
ENST00000682632.1:n.2196-6G>A (ERCC5)
ENST00000682869.1:n.2604-6G>A (ERCC5)
ENST00000683246.1:n.2732-6G>A (ERCC5)