Canonical Allele Identifier: CA388673504

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525638G>C (hg19) ; chr13:g.102873288G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873288G>C , CM000675.2:g.102873288G>C	GRCh38
NC_000013.10:g.103525638G>C , CM000675.1:g.103525638G>C	GRCh37
NC_000013.9:g.102323639G>C	NCBI36
NG_007146.1:g.32465G>C , LRG_464:g.32465G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4010G>C (ERCC5)
ENST00000682869.1:n.3558G>C (ERCC5)
ENST00000683246.1:n.4546G>C (ERCC5)
ENST00000683642.1:n.3139G>C (ERCC5)
ENST00000639132.1:c.3584G>C (BIVM-ERCC5)	ENSP00000492684.1:p.Arg1195Thr
ENST00000639435.1:c.4271G>C (BIVM-ERCC5)	ENSP00000491742.1:p.Arg1424Thr
ENST00000651002.1:c.*2670G>C (ERCC5)	ENSP00000498809.1:n.*2670G>C
ENST00000651055.1:n.3036G>C (ERCC5)
ENST00000651281.1:n.3277G>C (ERCC5)
ENST00000651387.1:n.2393G>C (ERCC5)
ENST00000651470.1:c.*81G>C (ERCC5)	ENSP00000498701.1:n.*81G>C
ENST00000652225.2:c.2909G>C (ERCC5) MANE Select	ENSP00000498881.2:p.Arg970Thr
ENST00000652613.1:c.2405G>C (ERCC5)	ENSP00000498357.1:p.Arg802Thr
ENST00000355739.8:c.2909G>C (ERCC5)	ENSP00000347978.4:p.Arg970Thr
ENST00000375954.1:c.608G>C (ERCC5)	ENSP00000365121.1:p.Arg203Thr
ENST00000610537.4:c.2906G>C (ERCC5)	ENSP00000478667.1:p.Arg969Thr
NM_000123.3:c.2909G>C , LRG_464t1:c.2909G>C (ERCC5)	NP_000114.2:p.Arg970Thr
NM_001204425.1:c.4271G>C (BIVM-ERCC5)	NP_001191354.1:p.Arg1424Thr
NM_000123.4:c.2909G>C (ERCC5) MANE Select	NP_000114.3:p.Arg970Thr
NM_001204425.2:c.4271G>C (BIVM-ERCC5)	NP_001191354.2:p.Arg1424Thr