Canonical Allele Identifier: CA388673490

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525632G>T (hg19) ; chr13:g.102873282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873282G>T , CM000675.2:g.102873282G>T	GRCh38
NC_000013.10:g.103525632G>T , CM000675.1:g.103525632G>T	GRCh37
NC_000013.9:g.102323633G>T	NCBI36
NG_007146.1:g.32459G>T , LRG_464:g.32459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4004G>T (ERCC5)
ENST00000682869.1:n.3552G>T (ERCC5)
ENST00000683246.1:n.4540G>T (ERCC5)
ENST00000683642.1:n.3133G>T (ERCC5)
ENST00000639132.1:c.3578G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Trp1193Leu
ENST00000639435.1:c.4265G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Trp1422Leu
ENST00000651002.1:c.*2664G>T (ERCC5)	ENSP00000498809.1:n.*2664G>T
ENST00000651055.1:n.3030G>T (ERCC5)
ENST00000651281.1:n.3271G>T (ERCC5)
ENST00000651387.1:n.2387G>T (ERCC5)
ENST00000651470.1:c.*75G>T (ERCC5)	ENSP00000498701.1:n.*75G>T
ENST00000652225.2:c.2903G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Trp968Leu
ENST00000652613.1:c.2399G>T (ERCC5)	ENSP00000498357.1:p.Trp800Leu
ENST00000355739.8:c.2903G>T (ERCC5)	ENSP00000347978.4:p.Trp968Leu
ENST00000375954.1:c.602G>T (ERCC5)	ENSP00000365121.1:p.Trp201Leu
ENST00000610537.4:c.2900G>T (ERCC5)	ENSP00000478667.1:p.Trp967Leu
NM_000123.3:c.2903G>T , LRG_464t1:c.2903G>T (ERCC5)	NP_000114.2:p.Trp968Leu
NM_001204425.1:c.4265G>T (BIVM-ERCC5)	NP_001191354.1:p.Trp1422Leu
NM_000123.4:c.2903G>T (ERCC5) MANE Select	NP_000114.3:p.Trp968Leu
NM_001204425.2:c.4265G>T (BIVM-ERCC5)	NP_001191354.2:p.Trp1422Leu