Canonical Allele Identifier: CA388674920

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527916T>C (hg19) ; chr13:g.102875566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875566T>C , CM000675.2:g.102875566T>C	GRCh38
NC_000013.10:g.103527916T>C , CM000675.1:g.103527916T>C	GRCh37
NC_000013.9:g.102325917T>C	NCBI36
NG_007146.1:g.34743T>C , LRG_464:g.34743T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4325T>C (ERCC5)
ENST00000682869.1:n.3873T>C (ERCC5)
ENST00000683246.1:n.4861T>C (ERCC5)
ENST00000683642.1:n.3454T>C (ERCC5)
ENST00000639132.1:c.3899T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1300Pro
ENST00000639435.1:c.4586T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1529Pro
ENST00000651002.1:c.*2985T>C (ERCC5)	ENSP00000498809.1:n.*2985T>C
ENST00000651055.1:n.3351T>C (ERCC5)
ENST00000651281.1:n.3592T>C (ERCC5)
ENST00000651387.1:n.2708T>C (ERCC5)
ENST00000651470.1:c.*396T>C (ERCC5)	ENSP00000498701.1:n.*396T>C
ENST00000652225.2:c.3224T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1075Pro
ENST00000652613.1:c.2720T>C (ERCC5)	ENSP00000498357.1:p.Leu907Pro
ENST00000355739.8:c.3224T>C (ERCC5)	ENSP00000347978.4:p.Leu1075Pro
ENST00000375954.1:c.923T>C (ERCC5)	ENSP00000365121.1:p.Leu308Pro
ENST00000472247.1:n.384T>C (ERCC5)
ENST00000610537.4:c.3221T>C (ERCC5)	ENSP00000478667.1:p.Leu1074Pro
NM_000123.3:c.3224T>C , LRG_464t1:c.3224T>C (ERCC5)	NP_000114.2:p.Leu1075Pro
NM_001204425.1:c.4586T>C (BIVM-ERCC5)	NP_001191354.1:p.Leu1529Pro
NM_000123.4:c.3224T>C (ERCC5) MANE Select	NP_000114.3:p.Leu1075Pro
NM_001204425.2:c.4586T>C (BIVM-ERCC5)	NP_001191354.2:p.Leu1529Pro