Canonical Allele Identifier: CA388673586

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525676C>T (hg19) ; chr13:g.102873326C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873326C>T , CM000675.2:g.102873326C>T	GRCh38
NC_000013.10:g.103525676C>T , CM000675.1:g.103525676C>T	GRCh37
NC_000013.9:g.102323677C>T	NCBI36
NG_007146.1:g.32503C>T , LRG_464:g.32503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4048C>T (ERCC5)
ENST00000682869.1:n.3596C>T (ERCC5)
ENST00000683246.1:n.4584C>T (ERCC5)
ENST00000683642.1:n.3177C>T (ERCC5)
ENST00000639132.1:c.3622C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Gln1208Ter
ENST00000639435.1:c.4309C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Gln1437Ter
ENST00000651002.1:c.*2708C>T (ERCC5)	ENSP00000498809.1:n.*2708C>T
ENST00000651055.1:n.3074C>T (ERCC5)
ENST00000651281.1:n.3315C>T (ERCC5)
ENST00000651387.1:n.2431C>T (ERCC5)
ENST00000651470.1:c.*119C>T (ERCC5)	ENSP00000498701.1:n.*119C>T
ENST00000652225.2:c.2947C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Gln983Ter
ENST00000652613.1:c.2443C>T (ERCC5)	ENSP00000498357.1:p.Gln815Ter
ENST00000355739.8:c.2947C>T (ERCC5)	ENSP00000347978.4:p.Gln983Ter
ENST00000375954.1:c.646C>T (ERCC5)	ENSP00000365121.1:p.Gln216Ter
ENST00000610537.4:c.2944C>T (ERCC5)	ENSP00000478667.1:p.Gln982Ter
NM_000123.3:c.2947C>T , LRG_464t1:c.2947C>T (ERCC5)	NP_000114.2:p.Gln983Ter
NM_001204425.1:c.4309C>T (BIVM-ERCC5)	NP_001191354.1:p.Gln1437Ter
NM_000123.4:c.2947C>T (ERCC5) MANE Select	NP_000114.3:p.Gln983Ter
NM_001204425.2:c.4309C>T (BIVM-ERCC5)	NP_001191354.2:p.Gln1437Ter