Canonical Allele Identifier: CA484859208

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525642G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873292G>C , CM000675.2:g.102873292G>C	GRCh38
NC_000013.10:g.103525642G>C , CM000675.1:g.103525642G>C	GRCh37
NC_000013.9:g.102323643G>C	NCBI36
NG_007146.1:g.32469G>C , LRG_464:g.32469G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4014G>C (ERCC5)
ENST00000682869.1:n.3562G>C (ERCC5)
ENST00000683246.1:n.4550G>C (ERCC5)
ENST00000683642.1:n.3143G>C (ERCC5)
ENST00000639132.1:c.3588G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1196=
ENST00000639435.1:c.4275G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1425=
ENST00000651002.1:c.*2674G>C (ERCC5)	ENSP00000498809.1:n.*2674G>C
ENST00000651055.1:n.3040G>C (ERCC5)
ENST00000651281.1:n.3281G>C (ERCC5)
ENST00000651387.1:n.2397G>C (ERCC5)
ENST00000651470.1:c.*85G>C (ERCC5)	ENSP00000498701.1:n.*85G>C
ENST00000652225.2:c.2913G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Thr971=
ENST00000652613.1:c.2409G>C (ERCC5)	ENSP00000498357.1:p.Thr803=
ENST00000355739.8:c.2913G>C (ERCC5)	ENSP00000347978.4:p.Thr971=
ENST00000375954.1:c.612G>C (ERCC5)	ENSP00000365121.1:p.Thr204=
ENST00000610537.4:c.2910G>C (ERCC5)	ENSP00000478667.1:p.Thr970=
NM_000123.3:c.2913G>C , LRG_464t1:c.2913G>C (ERCC5)	NP_000114.2:p.Thr971=
NM_001204425.1:c.4275G>C (BIVM-ERCC5)	NP_001191354.1:p.Thr1425=
NM_000123.4:c.2913G>C (ERCC5) MANE Select	NP_000114.3:p.Thr971=
NM_001204425.2:c.4275G>C (BIVM-ERCC5)	NP_001191354.2:p.Thr1425=