Canonical Allele Identifier: CA388566783

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103504503G>A (hg19) ; chr13:g.102852153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102852153G>A , CM000675.2:g.102852153G>A	GRCh38
NC_000013.10:g.103504503G>A , CM000675.1:g.103504503G>A	GRCh37
NC_000013.9:g.102302504G>A	NCBI36
NG_007146.1:g.11330G>A , LRG_464:g.11330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.365G>A (ERCC5)
ENST00000682869.1:n.358G>A (ERCC5)
ENST00000683246.1:n.486G>A (ERCC5)
ENST00000684184.1:n.355G>A (ERCC5)
ENST00000638434.1:c.363-1604G>A (BIVM-ERCC5)
ENST00000639118.1:c.475G>A (BIVM-ERCC5)
ENST00000639132.1:c.799G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Val267Ile
ENST00000639435.1:c.1486G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Val496Ile
ENST00000651002.1:c.124G>A (ERCC5)	ENSP00000498809.1:p.Val42Ile
ENST00000651055.1:n.253G>A (ERCC5)
ENST00000651281.1:n.492G>A (ERCC5)
ENST00000651470.1:c.124G>A (ERCC5)	ENSP00000498701.1:p.Val42Ile
ENST00000652225.2:c.124G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Val42Ile
ENST00000652613.1:c.-381G>A (ERCC5)	ENSP00000498357.1:n.-381G>A
ENST00000355739.8:c.124G>A (ERCC5)	ENSP00000347978.4:p.Val42Ile
ENST00000375958.3:n.279G>A (ERCC5)
ENST00000472151.1:c.*29G>A (ERCC5)	ENSP00000436083.1:n.*29G>A
ENST00000535557.5:c.124G>A (ERCC5)	ENSP00000442117.1:p.Val42Ile
ENST00000602836.1:c.1400G>A (BIVM-ERCC5)
ENST00000610537.4:c.124G>A (ERCC5)	ENSP00000478667.1:p.Val42Ile
NM_000123.3:c.124G>A , LRG_464t1:c.124G>A (ERCC5)	NP_000114.2:p.Val42Ile
NM_001204425.1:c.1486G>A (BIVM-ERCC5)	NP_001191354.1:p.Val496Ile
NM_000123.4:c.124G>A (ERCC5) MANE Select	NP_000114.3:p.Val42Ile
NM_001204425.2:c.1486G>A (BIVM-ERCC5)	NP_001191354.2:p.Val496Ile