Canonical Allele Identifier: CA388674917

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527915C>G (hg19) ; chr13:g.102875565C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4324C>G (ERCC5)
ENST00000682869.1:n.3872C>G (ERCC5)
ENST00000683246.1:n.4860C>G (ERCC5)
ENST00000683642.1:n.3453C>G (ERCC5)
ENST00000639132.1:c.3898C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1300Val
ENST00000639435.1:c.4585C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1529Val
ENST00000651002.1:c.*2984C>G (ERCC5)	ENSP00000498809.1:n.*2984C>G
ENST00000651055.1:n.3350C>G (ERCC5)
ENST00000651281.1:n.3591C>G (ERCC5)
ENST00000651387.1:n.2707C>G (ERCC5)
ENST00000651470.1:c.*395C>G (ERCC5)	ENSP00000498701.1:n.*395C>G
ENST00000652225.2:c.3223C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1075Val
ENST00000652613.1:c.2719C>G (ERCC5)	ENSP00000498357.1:p.Leu907Val
ENST00000355739.8:c.3223C>G (ERCC5)	ENSP00000347978.4:p.Leu1075Val
ENST00000375954.1:c.922C>G (ERCC5)	ENSP00000365121.1:p.Leu308Val
ENST00000472247.1:n.383C>G (ERCC5)
ENST00000610537.4:c.3220C>G (ERCC5)	ENSP00000478667.1:p.Leu1074Val
NM_000123.3:c.3223C>G , LRG_464t1:c.3223C>G (ERCC5)	NP_000114.2:p.Leu1075Val
NM_001204425.1:c.4585C>G (BIVM-ERCC5)	NP_001191354.1:p.Leu1529Val
NM_000123.4:c.3223C>G (ERCC5) MANE Select	NP_000114.3:p.Leu1075Val
NM_001204425.2:c.4585C>G (BIVM-ERCC5)	NP_001191354.2:p.Leu1529Val