Canonical Allele Identifier: CA388566770

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103504497A>T (hg19) ; chr13:g.102852147A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102852147A>T , CM000675.2:g.102852147A>T	GRCh38
NC_000013.10:g.103504497A>T , CM000675.1:g.103504497A>T	GRCh37
NC_000013.9:g.102302498A>T	NCBI36
NG_007146.1:g.11324A>T , LRG_464:g.11324A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.359A>T (ERCC5)
ENST00000682869.1:n.352A>T (ERCC5)
ENST00000683246.1:n.480A>T (ERCC5)
ENST00000684184.1:n.349A>T (ERCC5)
ENST00000638434.1:c.363-1610A>T (BIVM-ERCC5)
ENST00000639118.1:c.469A>T (BIVM-ERCC5)
ENST00000639132.1:c.793A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Lys265Ter
ENST00000639435.1:c.1480A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Lys494Ter
ENST00000651002.1:c.118A>T (ERCC5)	ENSP00000498809.1:p.Lys40Ter
ENST00000651055.1:n.247A>T (ERCC5)
ENST00000651281.1:n.486A>T (ERCC5)
ENST00000651470.1:c.118A>T (ERCC5)	ENSP00000498701.1:p.Lys40Ter
ENST00000652225.2:c.118A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Lys40Ter
ENST00000652613.1:c.-387A>T (ERCC5)	ENSP00000498357.1:n.-387A>T
ENST00000355739.8:c.118A>T (ERCC5)	ENSP00000347978.4:p.Lys40Ter
ENST00000375958.3:n.273A>T (ERCC5)
ENST00000472151.1:c.*23A>T (ERCC5)	ENSP00000436083.1:n.*23A>T
ENST00000535557.5:c.118A>T (ERCC5)	ENSP00000442117.1:p.Lys40Ter
ENST00000602836.1:c.1394A>T (BIVM-ERCC5)
ENST00000610537.4:c.118A>T (ERCC5)	ENSP00000478667.1:p.Lys40Ter
NM_000123.3:c.118A>T , LRG_464t1:c.118A>T (ERCC5)	NP_000114.2:p.Lys40Ter
NM_001204425.1:c.1480A>T (BIVM-ERCC5)	NP_001191354.1:p.Lys494Ter
NM_000123.4:c.118A>T (ERCC5) MANE Select	NP_000114.3:p.Lys40Ter
NM_001204425.2:c.1480A>T (BIVM-ERCC5)	NP_001191354.2:p.Lys494Ter