Canonical Allele Identifier: CA388576316

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103519040A>T (hg19) ; chr13:g.102866690A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102866690A>T , CM000675.2:g.102866690A>T	GRCh38
NC_000013.10:g.103519040A>T , CM000675.1:g.103519040A>T	GRCh37
NC_000013.9:g.102317041A>T	NCBI36
NG_007146.1:g.25867A>T , LRG_464:g.25867A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.2619A>T (ERCC5)
ENST00000682869.1:n.3027A>T (ERCC5)
ENST00000683246.1:n.3155A>T (ERCC5)
ENST00000639132.1:c.3053A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Gln1018Leu
ENST00000639435.1:c.3740A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Gln1247Leu
ENST00000651002.1:c.*2139A>T (ERCC5)	ENSP00000498809.1:n.*2139A>T
ENST00000651055.1:n.2507A>T (ERCC5)
ENST00000651281.1:n.2746A>T (ERCC5)
ENST00000651387.1:n.1862A>T (ERCC5)
ENST00000651470.1:c.2378A>T (ERCC5)	ENSP00000498701.1:p.Gln793Leu
ENST00000652225.2:c.2378A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Gln793Leu
ENST00000652613.1:c.1874A>T (ERCC5)	ENSP00000498357.1:p.Gln625Leu
ENST00000355739.8:c.2378A>T (ERCC5)	ENSP00000347978.4:p.Gln793Leu
ENST00000375954.1:c.77A>T (ERCC5)	ENSP00000365121.1:p.Gln26Leu
ENST00000481099.1:n.498A>T (ERCC5)
ENST00000602836.1:c.3654A>T (BIVM-ERCC5)
ENST00000610537.4:c.2378A>T (ERCC5)	ENSP00000478667.1:p.Gln793Leu
NM_000123.3:c.2378A>T , LRG_464t1:c.2378A>T (ERCC5)	NP_000114.2:p.Gln793Leu
NM_001204425.1:c.3740A>T (BIVM-ERCC5)	NP_001191354.1:p.Gln1247Leu
NM_000123.4:c.2378A>T (ERCC5) MANE Select	NP_000114.3:p.Gln793Leu
NM_001204425.2:c.3740A>T (BIVM-ERCC5)	NP_001191354.2:p.Gln1247Leu