Canonical Allele Identifier: CA2800408913

Gene: ERCC5 BIVM-ERCC5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846076G>C , CM000675.2:g.102846076G>C	GRCh38
NC_000013.10:g.103498426G>C , CM000675.1:g.103498426G>C	GRCh37
NC_000013.9:g.102296427G>C	NCBI36
NG_007146.1:g.5253G>C , LRG_464:g.5253G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.51G>C (ERCC5)
ENST00000682869.1:n.44G>C (ERCC5)
ENST00000683246.1:n.172G>C (ERCC5)
ENST00000684184.1:n.41G>C (ERCC5)
ENST00000638434.1:c.363-7681G>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3042G>C (BIVM-ERCC5)
ENST00000639132.1:c.764-6042G>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-6042G>C
ENST00000639435.1:c.1451-6042G>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6042G>C
ENST00000651002.1:c.-191G>C (ERCC5)	ENSP00000498809.1:n.-191G>C
ENST00000652225.2:c.-191G>C (ERCC5) MANE Select	ENSP00000498881.2:n.-191G>C
ENST00000652613.1:c.-688G>C (ERCC5)	ENSP00000498357.1:n.-688G>C
ENST00000355739.8:c.-191G>C (ERCC5)	ENSP00000347978.4:n.-191G>C
ENST00000472151.1:c.-191G>C (ERCC5)	ENSP00000436083.1:n.-191G>C
ENST00000535557.5:c.-191G>C (ERCC5)	ENSP00000442117.1:n.-191G>C
ENST00000602836.1:c.1365-6042G>C (BIVM-ERCC5)
NM_000123.3:c.-191G>C , LRG_464t1:c.-191G>C (ERCC5)	NP_000114.2:n.-191G>C
NM_001204425.1:c.1451-6042G>C (BIVM-ERCC5)	NP_001191354.1:n.1451-6042G>C
NM_000123.4:c.-191G>C (ERCC5) MANE Select	NP_000114.3:n.-191G>C
NM_001204425.2:c.1451-6042G>C (BIVM-ERCC5)	NP_001191354.2:n.1451-6042G>C