Canonical Allele Identifier: CA388674918

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140543444
• MyVariant Identifiers: chr13:g.103527915C>T (hg19) ; chr13:g.102875565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875565C>T , CM000675.2:g.102875565C>T	GRCh38
NC_000013.10:g.103527915C>T , CM000675.1:g.103527915C>T	GRCh37
NC_000013.9:g.102325916C>T	NCBI36
NG_007146.1:g.34742C>T , LRG_464:g.34742C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4324C>T (ERCC5)
ENST00000682869.1:n.3872C>T (ERCC5)
ENST00000683246.1:n.4860C>T (ERCC5)
ENST00000683642.1:n.3453C>T (ERCC5)
ENST00000639132.1:c.3898C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1300Phe
ENST00000639435.1:c.4585C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1529Phe
ENST00000651002.1:c.*2984C>T (ERCC5)	ENSP00000498809.1:n.*2984C>T
ENST00000651055.1:n.3350C>T (ERCC5)
ENST00000651281.1:n.3591C>T (ERCC5)
ENST00000651387.1:n.2707C>T (ERCC5)
ENST00000651470.1:c.*395C>T (ERCC5)	ENSP00000498701.1:n.*395C>T
ENST00000652225.2:c.3223C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1075Phe
ENST00000652613.1:c.2719C>T (ERCC5)	ENSP00000498357.1:p.Leu907Phe
ENST00000355739.8:c.3223C>T (ERCC5)	ENSP00000347978.4:p.Leu1075Phe
ENST00000375954.1:c.922C>T (ERCC5)	ENSP00000365121.1:p.Leu308Phe
ENST00000472247.1:n.383C>T (ERCC5)
ENST00000610537.4:c.3220C>T (ERCC5)	ENSP00000478667.1:p.Leu1074Phe
NM_000123.3:c.3223C>T , LRG_464t1:c.3223C>T (ERCC5)	NP_000114.2:p.Leu1075Phe
NM_001204425.1:c.4585C>T (BIVM-ERCC5)	NP_001191354.1:p.Leu1529Phe
NM_000123.4:c.3223C>T (ERCC5) MANE Select	NP_000114.3:p.Leu1075Phe
NM_001204425.2:c.4585C>T (BIVM-ERCC5)	NP_001191354.2:p.Leu1529Phe