Canonical Allele Identifier: CA388673524

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525647C>T (hg19) ; chr13:g.102873297C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873297C>T , CM000675.2:g.102873297C>T	GRCh38
NC_000013.10:g.103525647C>T , CM000675.1:g.103525647C>T	GRCh37
NC_000013.9:g.102323648C>T	NCBI36
NG_007146.1:g.32474C>T , LRG_464:g.32474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4019C>T (ERCC5)
ENST00000682869.1:n.3567C>T (ERCC5)
ENST00000683246.1:n.4555C>T (ERCC5)
ENST00000683642.1:n.3148C>T (ERCC5)
ENST00000639132.1:c.3593C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1198Ile
ENST00000639435.1:c.4280C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1427Ile
ENST00000651002.1:c.*2679C>T (ERCC5)	ENSP00000498809.1:n.*2679C>T
ENST00000651055.1:n.3045C>T (ERCC5)
ENST00000651281.1:n.3286C>T (ERCC5)
ENST00000651387.1:n.2402C>T (ERCC5)
ENST00000651470.1:c.*90C>T (ERCC5)	ENSP00000498701.1:n.*90C>T
ENST00000652225.2:c.2918C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Thr973Ile
ENST00000652613.1:c.2414C>T (ERCC5)	ENSP00000498357.1:p.Thr805Ile
ENST00000355739.8:c.2918C>T (ERCC5)	ENSP00000347978.4:p.Thr973Ile
ENST00000375954.1:c.617C>T (ERCC5)	ENSP00000365121.1:p.Thr206Ile
ENST00000610537.4:c.2915C>T (ERCC5)	ENSP00000478667.1:p.Thr972Ile
NM_000123.3:c.2918C>T , LRG_464t1:c.2918C>T (ERCC5)	NP_000114.2:p.Thr973Ile
NM_001204425.1:c.4280C>T (BIVM-ERCC5)	NP_001191354.1:p.Thr1427Ile
NM_000123.4:c.2918C>T (ERCC5) MANE Select	NP_000114.3:p.Thr973Ile
NM_001204425.2:c.4280C>T (BIVM-ERCC5)	NP_001191354.2:p.Thr1427Ile