Canonical Allele Identifier: CA388675052

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs374747511
• MyVariant Identifiers: chr13:g.103527981T>A (hg19) ; chr13:g.102875631T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875631T>A , CM000675.2:g.102875631T>A	GRCh38
NC_000013.10:g.103527981T>A , CM000675.1:g.103527981T>A	GRCh37
NC_000013.9:g.102325982T>A	NCBI36
NG_007146.1:g.34808T>A , LRG_464:g.34808T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4390T>A (ERCC5)
ENST00000682869.1:n.3938T>A (ERCC5)
ENST00000683246.1:n.4926T>A (ERCC5)
ENST00000683642.1:n.3519T>A (ERCC5)
ENST00000639132.1:c.3964T>A (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1322Thr
ENST00000639435.1:c.4651T>A (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1551Thr
ENST00000651002.1:c.*3050T>A (ERCC5)	ENSP00000498809.1:n.*3050T>A
ENST00000651055.1:n.3416T>A (ERCC5)
ENST00000651281.1:n.3657T>A (ERCC5)
ENST00000651387.1:n.2773T>A (ERCC5)
ENST00000651470.1:c.*461T>A (ERCC5)	ENSP00000498701.1:n.*461T>A
ENST00000652225.2:c.3289T>A (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1097Thr
ENST00000652613.1:c.2785T>A (ERCC5)	ENSP00000498357.1:p.Ser929Thr
ENST00000355739.8:c.3289T>A (ERCC5)	ENSP00000347978.4:p.Ser1097Thr
ENST00000375954.1:c.988T>A (ERCC5)	ENSP00000365121.1:p.Ser330Thr
ENST00000472247.1:n.449T>A (ERCC5)
ENST00000610537.4:c.3286T>A (ERCC5)	ENSP00000478667.1:p.Ser1096Thr
NM_000123.3:c.3289T>A , LRG_464t1:c.3289T>A (ERCC5)	NP_000114.2:p.Ser1097Thr
NM_001204425.1:c.4651T>A (BIVM-ERCC5)	NP_001191354.1:p.Ser1551Thr
NM_000123.4:c.3289T>A (ERCC5) MANE Select	NP_000114.3:p.Ser1097Thr
NM_001204425.2:c.4651T>A (BIVM-ERCC5)	NP_001191354.2:p.Ser1551Thr