Canonical Allele Identifier: CA388574033

Gene: ERCC5 BIVM-ERCC5

Linked Data

• COSMIC: COSM4147561
• MyVariant Identifiers: chr13:g.103515192G>T (hg19) ; chr13:g.102862842G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862842G>T , CM000675.2:g.102862842G>T	GRCh38
NC_000013.10:g.103515192G>T , CM000675.1:g.103515192G>T	GRCh37
NC_000013.9:g.102313193G>T	NCBI36
NG_007146.1:g.22019G>T , LRG_464:g.22019G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1934G>T (ERCC5)
ENST00000682869.1:n.2342G>T (ERCC5)
ENST00000683246.1:n.2470G>T (ERCC5)
ENST00000639132.1:c.2368G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Asp790Tyr
ENST00000639435.1:c.3055G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1019Tyr
ENST00000651002.1:c.*1454G>T (ERCC5)	ENSP00000498809.1:n.*1454G>T
ENST00000651055.1:n.1822G>T (ERCC5)
ENST00000651281.1:n.2061G>T (ERCC5)
ENST00000651387.1:n.1177G>T (ERCC5)
ENST00000651470.1:c.1693G>T (ERCC5)	ENSP00000498701.1:p.Asp565Tyr
ENST00000652225.2:c.1693G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Asp565Tyr
ENST00000652613.1:c.1189G>T (ERCC5)	ENSP00000498357.1:p.Asp397Tyr
ENST00000355739.8:c.1693G>T (ERCC5)	ENSP00000347978.4:p.Asp565Tyr
ENST00000602836.1:c.2969G>T (BIVM-ERCC5)
ENST00000610537.4:c.1693G>T (ERCC5)	ENSP00000478667.1:p.Asp565Tyr
NM_000123.3:c.1693G>T , LRG_464t1:c.1693G>T (ERCC5)	NP_000114.2:p.Asp565Tyr
NM_001204425.1:c.3055G>T (BIVM-ERCC5)	NP_001191354.1:p.Asp1019Tyr
NM_000123.4:c.1693G>T (ERCC5) MANE Select	NP_000114.3:p.Asp565Tyr
NM_001204425.2:c.3055G>T (BIVM-ERCC5)	NP_001191354.2:p.Asp1019Tyr