Canonical Allele Identifier: CA388569336

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1882406809
• gnomAD v4: 13-102856091-G-T
• COSMIC: COSM945187
• MyVariant Identifiers: chr13:g.103508441G>T (hg19) ; chr13:g.102856091G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856091G>T , CM000675.2:g.102856091G>T	GRCh38
NC_000013.10:g.103508441G>T , CM000675.1:g.103508441G>T	GRCh37
NC_000013.9:g.102306442G>T	NCBI36
NG_007146.1:g.15268G>T , LRG_464:g.15268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.748G>T (ERCC5)
ENST00000682869.1:n.1156G>T (ERCC5)
ENST00000683246.1:n.1284G>T (ERCC5)
ENST00000684184.1:n.1153G>T (ERCC5)
ENST00000638434.1:c.605G>T (BIVM-ERCC5)
ENST00000639132.1:c.1182G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Met394Ile
ENST00000639435.1:c.1869G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Met623Ile
ENST00000651002.1:c.*268G>T (ERCC5)	ENSP00000498809.1:n.*268G>T
ENST00000651055.1:n.636G>T (ERCC5)
ENST00000651281.1:n.875G>T (ERCC5)
ENST00000651470.1:c.507G>T (ERCC5)	ENSP00000498701.1:p.Met169Ile
ENST00000652225.2:c.507G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Met169Ile
ENST00000652613.1:c.3G>T (ERCC5)	ENSP00000498357.1:p.Met1Ile
ENST00000355739.8:c.507G>T (ERCC5)	ENSP00000347978.4:p.Met169Ile
ENST00000535557.5:c.507G>T (ERCC5)	ENSP00000442117.1:p.Met169Ile
ENST00000602836.1:c.1783G>T (BIVM-ERCC5)
ENST00000610537.4:c.507G>T (ERCC5)	ENSP00000478667.1:p.Met169Ile
NM_000123.3:c.507G>T , LRG_464t1:c.507G>T (ERCC5)	NP_000114.2:p.Met169Ile
NM_001204425.1:c.1869G>T (BIVM-ERCC5)	NP_001191354.1:p.Met623Ile
NM_000123.4:c.507G>T (ERCC5) MANE Select	NP_000114.3:p.Met169Ile
NM_001204425.2:c.1869G>T (BIVM-ERCC5)	NP_001191354.2:p.Met623Ile