Canonical Allele Identifier: CA388574212

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102862905-A-G
• MyVariant Identifiers: chr13:g.103515255A>G (hg19) ; chr13:g.102862905A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862905A>G , CM000675.2:g.102862905A>G	GRCh38
NC_000013.10:g.103515255A>G , CM000675.1:g.103515255A>G	GRCh37
NC_000013.9:g.102313256A>G	NCBI36
NG_007146.1:g.22082A>G , LRG_464:g.22082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.1997A>G (ERCC5)
ENST00000682869.1:n.2405A>G (ERCC5)
ENST00000683246.1:n.2533A>G (ERCC5)
ENST00000639132.1:c.2431A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Thr811Ala
ENST00000639435.1:c.3118A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1040Ala
ENST00000651002.1:c.*1517A>G (ERCC5)	ENSP00000498809.1:n.*1517A>G
ENST00000651055.1:n.1885A>G (ERCC5)
ENST00000651281.1:n.2124A>G (ERCC5)
ENST00000651387.1:n.1240A>G (ERCC5)
ENST00000651470.1:c.1756A>G (ERCC5)	ENSP00000498701.1:p.Thr586Ala
ENST00000652225.2:c.1756A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Thr586Ala
ENST00000652613.1:c.1252A>G (ERCC5)	ENSP00000498357.1:p.Thr418Ala
ENST00000355739.8:c.1756A>G (ERCC5)	ENSP00000347978.4:p.Thr586Ala
ENST00000602836.1:c.3032A>G (BIVM-ERCC5)
ENST00000610537.4:c.1756A>G (ERCC5)	ENSP00000478667.1:p.Thr586Ala
NM_000123.3:c.1756A>G , LRG_464t1:c.1756A>G (ERCC5)	NP_000114.2:p.Thr586Ala
NM_001204425.1:c.3118A>G (BIVM-ERCC5)	NP_001191354.1:p.Thr1040Ala
NM_000123.4:c.1756A>G (ERCC5) MANE Select	NP_000114.3:p.Thr586Ala
NM_001204425.2:c.3118A>G (BIVM-ERCC5)	NP_001191354.2:p.Thr1040Ala