Canonical Allele Identifier: CA388574103

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140528496
• MyVariant Identifiers: chr13:g.103515220C>T (hg19) ; chr13:g.102862870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862870C>T , CM000675.2:g.102862870C>T	GRCh38
NC_000013.10:g.103515220C>T , CM000675.1:g.103515220C>T	GRCh37
NC_000013.9:g.102313221C>T	NCBI36
NG_007146.1:g.22047C>T , LRG_464:g.22047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1962C>T (ERCC5)
ENST00000682869.1:n.2370C>T (ERCC5)
ENST00000683246.1:n.2498C>T (ERCC5)
ENST00000639132.1:c.2396C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ala799Val
ENST00000639435.1:c.3083C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1028Val
ENST00000651002.1:c.*1482C>T (ERCC5)	ENSP00000498809.1:n.*1482C>T
ENST00000651055.1:n.1850C>T (ERCC5)
ENST00000651281.1:n.2089C>T (ERCC5)
ENST00000651387.1:n.1205C>T (ERCC5)
ENST00000651470.1:c.1721C>T (ERCC5)	ENSP00000498701.1:p.Ala574Val
ENST00000652225.2:c.1721C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ala574Val
ENST00000652613.1:c.1217C>T (ERCC5)	ENSP00000498357.1:p.Ala406Val
ENST00000355739.8:c.1721C>T (ERCC5)	ENSP00000347978.4:p.Ala574Val
ENST00000602836.1:c.2997C>T (BIVM-ERCC5)
ENST00000610537.4:c.1721C>T (ERCC5)	ENSP00000478667.1:p.Ala574Val
NM_000123.3:c.1721C>T , LRG_464t1:c.1721C>T (ERCC5)	NP_000114.2:p.Ala574Val
NM_001204425.1:c.3083C>T (BIVM-ERCC5)	NP_001191354.1:p.Ala1028Val
NM_000123.4:c.1721C>T (ERCC5) MANE Select	NP_000114.3:p.Ala574Val
NM_001204425.2:c.3083C>T (BIVM-ERCC5)	NP_001191354.2:p.Ala1028Val