Canonical Allele Identifier: CA388675102

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103528004T>A (hg19) ; chr13:g.102875654T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875654T>A , CM000675.2:g.102875654T>A	GRCh38
NC_000013.10:g.103528004T>A , CM000675.1:g.103528004T>A	GRCh37
NC_000013.9:g.102326005T>A	NCBI36
NG_007146.1:g.34831T>A , LRG_464:g.34831T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4413T>A (ERCC5)
ENST00000682869.1:n.3961T>A (ERCC5)
ENST00000683246.1:n.4949T>A (ERCC5)
ENST00000683642.1:n.3542T>A (ERCC5)
ENST00000639132.1:c.3987T>A (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1329Glu
ENST00000639435.1:c.4674T>A (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1558Glu
ENST00000651002.1:c.*3073T>A (ERCC5)	ENSP00000498809.1:n.*3073T>A
ENST00000651055.1:n.3439T>A (ERCC5)
ENST00000651281.1:n.3680T>A (ERCC5)
ENST00000651387.1:n.2796T>A (ERCC5)
ENST00000651470.1:c.*484T>A (ERCC5)	ENSP00000498701.1:n.*484T>A
ENST00000652225.2:c.3312T>A (ERCC5) MANE Select	ENSP00000498881.2:p.Asp1104Glu
ENST00000652613.1:c.2808T>A (ERCC5)	ENSP00000498357.1:p.Asp936Glu
ENST00000355739.8:c.3312T>A (ERCC5)	ENSP00000347978.4:p.Asp1104Glu
ENST00000375954.1:c.1011T>A (ERCC5)	ENSP00000365121.1:p.Asp337Glu
ENST00000472247.1:n.472T>A (ERCC5)
ENST00000610537.4:c.3309T>A (ERCC5)	ENSP00000478667.1:p.Asp1103Glu
NM_000123.3:c.3312T>A , LRG_464t1:c.3312T>A (ERCC5)	NP_000114.2:p.Asp1104Glu
NM_001204425.1:c.4674T>A (BIVM-ERCC5)	NP_001191354.1:p.Asp1558Glu
NM_000123.4:c.3312T>A (ERCC5) MANE Select	NP_000114.3:p.Asp1104Glu
NM_001204425.2:c.4674T>A (BIVM-ERCC5)	NP_001191354.2:p.Asp1558Glu