Canonical Allele Identifier: CA388673520

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102873296-A-G
• MyVariant Identifiers: chr13:g.103525646A>G (hg19) ; chr13:g.102873296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873296A>G , CM000675.2:g.102873296A>G	GRCh38
NC_000013.10:g.103525646A>G , CM000675.1:g.103525646A>G	GRCh37
NC_000013.9:g.102323647A>G	NCBI36
NG_007146.1:g.32473A>G , LRG_464:g.32473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4018A>G (ERCC5)
ENST00000682869.1:n.3566A>G (ERCC5)
ENST00000683246.1:n.4554A>G (ERCC5)
ENST00000683642.1:n.3147A>G (ERCC5)
ENST00000639132.1:c.3592A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1198Ala
ENST00000639435.1:c.4279A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1427Ala
ENST00000651002.1:c.*2678A>G (ERCC5)	ENSP00000498809.1:n.*2678A>G
ENST00000651055.1:n.3044A>G (ERCC5)
ENST00000651281.1:n.3285A>G (ERCC5)
ENST00000651387.1:n.2401A>G (ERCC5)
ENST00000651470.1:c.*89A>G (ERCC5)	ENSP00000498701.1:n.*89A>G
ENST00000652225.2:c.2917A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Thr973Ala
ENST00000652613.1:c.2413A>G (ERCC5)	ENSP00000498357.1:p.Thr805Ala
ENST00000355739.8:c.2917A>G (ERCC5)	ENSP00000347978.4:p.Thr973Ala
ENST00000375954.1:c.616A>G (ERCC5)	ENSP00000365121.1:p.Thr206Ala
ENST00000610537.4:c.2914A>G (ERCC5)	ENSP00000478667.1:p.Thr972Ala
NM_000123.3:c.2917A>G , LRG_464t1:c.2917A>G (ERCC5)	NP_000114.2:p.Thr973Ala
NM_001204425.1:c.4279A>G (BIVM-ERCC5)	NP_001191354.1:p.Thr1427Ala
NM_000123.4:c.2917A>G (ERCC5) MANE Select	NP_000114.3:p.Thr973Ala
NM_001204425.2:c.4279A>G (BIVM-ERCC5)	NP_001191354.2:p.Thr1427Ala