Canonical Allele Identifier: CA388565021

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103498618T>G (hg19) ; chr13:g.102846268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846268T>G , CM000675.2:g.102846268T>G	GRCh38
NC_000013.10:g.103498618T>G , CM000675.1:g.103498618T>G	GRCh37
NC_000013.9:g.102296619T>G	NCBI36
NG_007146.1:g.5445T>G , LRG_464:g.5445T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.243T>G (ERCC5)
ENST00000682869.1:n.236T>G (ERCC5)
ENST00000683246.1:n.364T>G (ERCC5)
ENST00000684184.1:n.233T>G (ERCC5)
ENST00000638434.1:c.363-7489T>G (BIVM-ERCC5)
ENST00000639118.1:c.363-2850T>G (BIVM-ERCC5)
ENST00000639132.1:c.764-5850T>G (BIVM-ERCC5)	ENSP00000492684.1:n.764-5850T>G
ENST00000639435.1:c.1451-5850T>G (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5850T>G
ENST00000651002.1:c.2T>G (ERCC5)	ENSP00000498809.1:p.Met1Arg
ENST00000651470.1:c.2T>G (ERCC5)	ENSP00000498701.1:p.Met1Arg
ENST00000652225.2:c.2T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Met1Arg
ENST00000652613.1:c.-496T>G (ERCC5)	ENSP00000498357.1:n.-496T>G
ENST00000355739.8:c.2T>G (ERCC5)	ENSP00000347978.4:p.Met1Arg
ENST00000375958.3:n.157T>G (ERCC5)
ENST00000472151.1:c.2T>G (ERCC5)	ENSP00000436083.1:p.Met1Arg
ENST00000535557.5:c.2T>G (ERCC5)	ENSP00000442117.1:p.Met1Arg
ENST00000602836.1:c.1365-5850T>G (BIVM-ERCC5)
ENST00000610537.4:c.2T>G (ERCC5)	ENSP00000478667.1:p.Met1Arg
NM_000123.3:c.2T>G , LRG_464t1:c.2T>G (ERCC5)	NP_000114.2:p.Met1Arg
NM_001204425.1:c.1451-5850T>G (BIVM-ERCC5)	NP_001191354.1:n.1451-5850T>G
NM_000123.4:c.2T>G (ERCC5) MANE Select	NP_000114.3:p.Met1Arg
NM_001204425.2:c.1451-5850T>G (BIVM-ERCC5)	NP_001191354.2:n.1451-5850T>G