Canonical Allele Identifier: CA484983673

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527971C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875621C>A , CM000675.2:g.102875621C>A	GRCh38
NC_000013.10:g.103527971C>A , CM000675.1:g.103527971C>A	GRCh37
NC_000013.9:g.102325972C>A	NCBI36
NG_007146.1:g.34798C>A , LRG_464:g.34798C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4380C>A (ERCC5)
ENST00000682869.1:n.3928C>A (ERCC5)
ENST00000683246.1:n.4916C>A (ERCC5)
ENST00000683642.1:n.3509C>A (ERCC5)
ENST00000639132.1:c.3954C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1318=
ENST00000639435.1:c.4641C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1547=
ENST00000651002.1:c.*3040C>A (ERCC5)	ENSP00000498809.1:n.*3040C>A
ENST00000651055.1:n.3406C>A (ERCC5)
ENST00000651281.1:n.3647C>A (ERCC5)
ENST00000651387.1:n.2763C>A (ERCC5)
ENST00000651470.1:c.*451C>A (ERCC5)	ENSP00000498701.1:n.*451C>A
ENST00000652225.2:c.3279C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1093=
ENST00000652613.1:c.2775C>A (ERCC5)	ENSP00000498357.1:p.Leu925=
ENST00000355739.8:c.3279C>A (ERCC5)	ENSP00000347978.4:p.Leu1093=
ENST00000375954.1:c.978C>A (ERCC5)	ENSP00000365121.1:p.Leu326=
ENST00000472247.1:n.439C>A (ERCC5)
ENST00000610537.4:c.3276C>A (ERCC5)	ENSP00000478667.1:p.Leu1092=
NM_000123.3:c.3279C>A , LRG_464t1:c.3279C>A (ERCC5)	NP_000114.2:p.Leu1093=
NM_001204425.1:c.4641C>A (BIVM-ERCC5)	NP_001191354.1:p.Leu1547=
NM_000123.4:c.3279C>A (ERCC5) MANE Select	NP_000114.3:p.Leu1093=
NM_001204425.2:c.4641C>A (BIVM-ERCC5)	NP_001191354.2:p.Leu1547=