Canonical Allele Identifier: CA484776554

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102856061-G-A
• MyVariant Identifiers: chr13:g.103508411G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856061G>A , CM000675.2:g.102856061G>A	GRCh38
NC_000013.10:g.103508411G>A , CM000675.1:g.103508411G>A	GRCh37
NC_000013.9:g.102306412G>A	NCBI36
NG_007146.1:g.15238G>A , LRG_464:g.15238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.718G>A (ERCC5)
ENST00000682869.1:n.1126G>A (ERCC5)
ENST00000683246.1:n.1254G>A (ERCC5)
ENST00000684184.1:n.1123G>A (ERCC5)
ENST00000638434.1:c.575G>A (BIVM-ERCC5)
ENST00000639132.1:c.1152G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Glu384=
ENST00000639435.1:c.1839G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Glu613=
ENST00000651002.1:c.*238G>A (ERCC5)	ENSP00000498809.1:n.*238G>A
ENST00000651055.1:n.606G>A (ERCC5)
ENST00000651281.1:n.845G>A (ERCC5)
ENST00000651470.1:c.477G>A (ERCC5)	ENSP00000498701.1:p.Glu159=
ENST00000652225.2:c.477G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Glu159=
ENST00000652613.1:c.-28G>A (ERCC5)	ENSP00000498357.1:n.-28G>A
ENST00000355739.8:c.477G>A (ERCC5)	ENSP00000347978.4:p.Glu159=
ENST00000535557.5:c.477G>A (ERCC5)	ENSP00000442117.1:p.Glu159=
ENST00000602836.1:c.1753G>A (BIVM-ERCC5)
ENST00000610537.4:c.477G>A (ERCC5)	ENSP00000478667.1:p.Glu159=
NM_000123.3:c.477G>A , LRG_464t1:c.477G>A (ERCC5)	NP_000114.2:p.Glu159=
NM_001204425.1:c.1839G>A (BIVM-ERCC5)	NP_001191354.1:p.Glu613=
NM_000123.4:c.477G>A (ERCC5) MANE Select	NP_000114.3:p.Glu159=
NM_001204425.2:c.1839G>A (BIVM-ERCC5)	NP_001191354.2:p.Glu613=