Canonical Allele Identifier: CA388673558

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525663T>G (hg19) ; chr13:g.102873313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873313T>G , CM000675.2:g.102873313T>G	GRCh38
NC_000013.10:g.103525663T>G , CM000675.1:g.103525663T>G	GRCh37
NC_000013.9:g.102323664T>G	NCBI36
NG_007146.1:g.32490T>G , LRG_464:g.32490T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4035T>G (ERCC5)
ENST00000682869.1:n.3583T>G (ERCC5)
ENST00000683246.1:n.4571T>G (ERCC5)
ENST00000683642.1:n.3164T>G (ERCC5)
ENST00000639132.1:c.3609T>G (BIVM-ERCC5)	ENSP00000492684.1:p.Phe1203Leu
ENST00000639435.1:c.4296T>G (BIVM-ERCC5)	ENSP00000491742.1:p.Phe1432Leu
ENST00000651002.1:c.*2695T>G (ERCC5)	ENSP00000498809.1:n.*2695T>G
ENST00000651055.1:n.3061T>G (ERCC5)
ENST00000651281.1:n.3302T>G (ERCC5)
ENST00000651387.1:n.2418T>G (ERCC5)
ENST00000651470.1:c.*106T>G (ERCC5)	ENSP00000498701.1:n.*106T>G
ENST00000652225.2:c.2934T>G (ERCC5) MANE Select	ENSP00000498881.2:p.Phe978Leu
ENST00000652613.1:c.2430T>G (ERCC5)	ENSP00000498357.1:p.Phe810Leu
ENST00000355739.8:c.2934T>G (ERCC5)	ENSP00000347978.4:p.Phe978Leu
ENST00000375954.1:c.633T>G (ERCC5)	ENSP00000365121.1:p.Phe211Leu
ENST00000610537.4:c.2931T>G (ERCC5)	ENSP00000478667.1:p.Phe977Leu
NM_000123.3:c.2934T>G , LRG_464t1:c.2934T>G (ERCC5)	NP_000114.2:p.Phe978Leu
NM_001204425.1:c.4296T>G (BIVM-ERCC5)	NP_001191354.1:p.Phe1432Leu
NM_000123.4:c.2934T>G (ERCC5) MANE Select	NP_000114.3:p.Phe978Leu
NM_001204425.2:c.4296T>G (BIVM-ERCC5)	NP_001191354.2:p.Phe1432Leu