Canonical Allele Identifier: CA388566787

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103504504T>C (hg19) ; chr13:g.102852154T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102852154T>C , CM000675.2:g.102852154T>C	GRCh38
NC_000013.10:g.103504504T>C , CM000675.1:g.103504504T>C	GRCh37
NC_000013.9:g.102302505T>C	NCBI36
NG_007146.1:g.11331T>C , LRG_464:g.11331T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.366T>C (ERCC5)
ENST00000682869.1:n.359T>C (ERCC5)
ENST00000683246.1:n.487T>C (ERCC5)
ENST00000684184.1:n.356T>C (ERCC5)
ENST00000638434.1:c.363-1603T>C (BIVM-ERCC5)
ENST00000639118.1:c.476T>C (BIVM-ERCC5)
ENST00000639132.1:c.800T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Val267Ala
ENST00000639435.1:c.1487T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Val496Ala
ENST00000651002.1:c.125T>C (ERCC5)	ENSP00000498809.1:p.Val42Ala
ENST00000651055.1:n.254T>C (ERCC5)
ENST00000651281.1:n.493T>C (ERCC5)
ENST00000651470.1:c.125T>C (ERCC5)	ENSP00000498701.1:p.Val42Ala
ENST00000652225.2:c.125T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Val42Ala
ENST00000652613.1:c.-380T>C (ERCC5)	ENSP00000498357.1:n.-380T>C
ENST00000355739.8:c.125T>C (ERCC5)	ENSP00000347978.4:p.Val42Ala
ENST00000375958.3:n.280T>C (ERCC5)
ENST00000472151.1:c.*30T>C (ERCC5)	ENSP00000436083.1:n.*30T>C
ENST00000535557.5:c.125T>C (ERCC5)	ENSP00000442117.1:p.Val42Ala
ENST00000602836.1:c.1401T>C (BIVM-ERCC5)
ENST00000610537.4:c.125T>C (ERCC5)	ENSP00000478667.1:p.Val42Ala
NM_000123.3:c.125T>C , LRG_464t1:c.125T>C (ERCC5)	NP_000114.2:p.Val42Ala
NM_001204425.1:c.1487T>C (BIVM-ERCC5)	NP_001191354.1:p.Val496Ala
NM_000123.4:c.125T>C (ERCC5) MANE Select	NP_000114.3:p.Val42Ala
NM_001204425.2:c.1487T>C (BIVM-ERCC5)	NP_001191354.2:p.Val496Ala