Canonical Allele Identifier: CA388675062

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527986T>A (hg19) ; chr13:g.102875636T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875636T>A , CM000675.2:g.102875636T>A	GRCh38
NC_000013.10:g.103527986T>A , CM000675.1:g.103527986T>A	GRCh37
NC_000013.9:g.102325987T>A	NCBI36
NG_007146.1:g.34813T>A , LRG_464:g.34813T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4395T>A (ERCC5)
ENST00000682869.1:n.3943T>A (ERCC5)
ENST00000683246.1:n.4931T>A (ERCC5)
ENST00000683642.1:n.3524T>A (ERCC5)
ENST00000639132.1:c.3969T>A (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1323Glu
ENST00000639435.1:c.4656T>A (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1552Glu
ENST00000651002.1:c.*3055T>A (ERCC5)	ENSP00000498809.1:n.*3055T>A
ENST00000651055.1:n.3421T>A (ERCC5)
ENST00000651281.1:n.3662T>A (ERCC5)
ENST00000651387.1:n.2778T>A (ERCC5)
ENST00000651470.1:c.*466T>A (ERCC5)	ENSP00000498701.1:n.*466T>A
ENST00000652225.2:c.3294T>A (ERCC5) MANE Select	ENSP00000498881.2:p.Asp1098Glu
ENST00000652613.1:c.2790T>A (ERCC5)	ENSP00000498357.1:p.Asp930Glu
ENST00000355739.8:c.3294T>A (ERCC5)	ENSP00000347978.4:p.Asp1098Glu
ENST00000375954.1:c.993T>A (ERCC5)	ENSP00000365121.1:p.Asp331Glu
ENST00000472247.1:n.454T>A (ERCC5)
ENST00000610537.4:c.3291T>A (ERCC5)	ENSP00000478667.1:p.Asp1097Glu
NM_000123.3:c.3294T>A , LRG_464t1:c.3294T>A (ERCC5)	NP_000114.2:p.Asp1098Glu
NM_001204425.1:c.4656T>A (BIVM-ERCC5)	NP_001191354.1:p.Asp1552Glu
NM_000123.4:c.3294T>A (ERCC5) MANE Select	NP_000114.3:p.Asp1098Glu
NM_001204425.2:c.4656T>A (BIVM-ERCC5)	NP_001191354.2:p.Asp1552Glu