Canonical Allele Identifier: CA388675029

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527970T>A (hg19) ; chr13:g.102875620T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875620T>A , CM000675.2:g.102875620T>A	GRCh38
NC_000013.10:g.103527970T>A , CM000675.1:g.103527970T>A	GRCh37
NC_000013.9:g.102325971T>A	NCBI36
NG_007146.1:g.34797T>A , LRG_464:g.34797T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4379T>A (ERCC5)
ENST00000682869.1:n.3927T>A (ERCC5)
ENST00000683246.1:n.4915T>A (ERCC5)
ENST00000683642.1:n.3508T>A (ERCC5)
ENST00000639132.1:c.3953T>A (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1318His
ENST00000639435.1:c.4640T>A (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1547His
ENST00000651002.1:c.*3039T>A (ERCC5)	ENSP00000498809.1:n.*3039T>A
ENST00000651055.1:n.3405T>A (ERCC5)
ENST00000651281.1:n.3646T>A (ERCC5)
ENST00000651387.1:n.2762T>A (ERCC5)
ENST00000651470.1:c.*450T>A (ERCC5)	ENSP00000498701.1:n.*450T>A
ENST00000652225.2:c.3278T>A (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1093His
ENST00000652613.1:c.2774T>A (ERCC5)	ENSP00000498357.1:p.Leu925His
ENST00000355739.8:c.3278T>A (ERCC5)	ENSP00000347978.4:p.Leu1093His
ENST00000375954.1:c.977T>A (ERCC5)	ENSP00000365121.1:p.Leu326His
ENST00000472247.1:n.438T>A (ERCC5)
ENST00000610537.4:c.3275T>A (ERCC5)	ENSP00000478667.1:p.Leu1092His
NM_000123.3:c.3278T>A , LRG_464t1:c.3278T>A (ERCC5)	NP_000114.2:p.Leu1093His
NM_001204425.1:c.4640T>A (BIVM-ERCC5)	NP_001191354.1:p.Leu1547His
NM_000123.4:c.3278T>A (ERCC5) MANE Select	NP_000114.3:p.Leu1093His
NM_001204425.2:c.4640T>A (BIVM-ERCC5)	NP_001191354.2:p.Leu1547His