Canonical Allele Identifier: CA388673548

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525659T>A (hg19) ; chr13:g.102873309T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873309T>A , CM000675.2:g.102873309T>A	GRCh38
NC_000013.10:g.103525659T>A , CM000675.1:g.103525659T>A	GRCh37
NC_000013.9:g.102323660T>A	NCBI36
NG_007146.1:g.32486T>A , LRG_464:g.32486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4031T>A (ERCC5)
ENST00000682869.1:n.3579T>A (ERCC5)
ENST00000683246.1:n.4567T>A (ERCC5)
ENST00000683642.1:n.3160T>A (ERCC5)
ENST00000639132.1:c.3605T>A (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1202Gln
ENST00000639435.1:c.4292T>A (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1431Gln
ENST00000651002.1:c.*2691T>A (ERCC5)	ENSP00000498809.1:n.*2691T>A
ENST00000651055.1:n.3057T>A (ERCC5)
ENST00000651281.1:n.3298T>A (ERCC5)
ENST00000651387.1:n.2414T>A (ERCC5)
ENST00000651470.1:c.*102T>A (ERCC5)	ENSP00000498701.1:n.*102T>A
ENST00000652225.2:c.2930T>A (ERCC5) MANE Select	ENSP00000498881.2:p.Leu977Gln
ENST00000652613.1:c.2426T>A (ERCC5)	ENSP00000498357.1:p.Leu809Gln
ENST00000355739.8:c.2930T>A (ERCC5)	ENSP00000347978.4:p.Leu977Gln
ENST00000375954.1:c.629T>A (ERCC5)	ENSP00000365121.1:p.Leu210Gln
ENST00000610537.4:c.2927T>A (ERCC5)	ENSP00000478667.1:p.Leu976Gln
NM_000123.3:c.2930T>A , LRG_464t1:c.2930T>A (ERCC5)	NP_000114.2:p.Leu977Gln
NM_001204425.1:c.4292T>A (BIVM-ERCC5)	NP_001191354.1:p.Leu1431Gln
NM_000123.4:c.2930T>A (ERCC5) MANE Select	NP_000114.3:p.Leu977Gln
NM_001204425.2:c.4292T>A (BIVM-ERCC5)	NP_001191354.2:p.Leu1431Gln