Canonical Allele Identifier: CA13821888

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102870617A>C , CM000675.2:g.102870617A>C	GRCh38
NC_000013.10:g.103522967A>C , CM000675.1:g.103522967A>C	GRCh37
NC_000013.9:g.102320968A>C	NCBI36
NG_007146.1:g.29794A>C , LRG_464:g.29794A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.2920-1581A>C (ERCC5)
ENST00000682869.1:n.3328-1581A>C (ERCC5)
ENST00000683246.1:n.3456-1581A>C (ERCC5)
ENST00000683642.1:n.468A>C (ERCC5)
ENST00000639132.1:c.3354-1581A>C (BIVM-ERCC5)	ENSP00000492684.1:n.3354-1581A>C
ENST00000639435.1:c.4041-1581A>C (BIVM-ERCC5)	ENSP00000491742.1:n.4041-1581A>C
ENST00000651002.1:c.*2440-1581A>C (ERCC5)	ENSP00000498809.1:n.*2440-1581A>C
ENST00000651055.1:n.2808-1581A>C (ERCC5)
ENST00000651281.1:n.3047-1581A>C (ERCC5)
ENST00000651387.1:n.2163-1581A>C (ERCC5)
ENST00000651470.1:c.2679-1694A>C (ERCC5)	ENSP00000498701.1:n.2679-1694A>C
ENST00000652225.2:c.2679-1581A>C (ERCC5) MANE Select	ENSP00000498881.2:n.2679-1581A>C
ENST00000652613.1:c.2175-1581A>C (ERCC5)	ENSP00000498357.1:n.2175-1581A>C
ENST00000355739.8:c.2679-1581A>C (ERCC5)	ENSP00000347978.4:n.2679-1581A>C
ENST00000375954.1:c.378-1581A>C (ERCC5)	ENSP00000365121.1:n.378-1581A>C
ENST00000602836.1:c.3955-1581A>C (BIVM-ERCC5)
ENST00000610537.4:c.2676-1581A>C (ERCC5)	ENSP00000478667.1:n.2676-1581A>C
NM_000123.3:c.2679-1581A>C , LRG_464t1:c.2679-1581A>C (ERCC5)	NP_000114.2:n.2679-1581A>C
NM_001204425.1:c.4041-1581A>C (BIVM-ERCC5)	NP_001191354.1:n.4041-1581A>C
NM_000123.4:c.2679-1581A>C (ERCC5) MANE Select	NP_000114.3:n.2679-1581A>C
NM_001204425.2:c.4041-1581A>C (BIVM-ERCC5)	NP_001191354.2:n.4041-1581A>C