Canonical Allele Identifier: CA388674941

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875575-C-T
• COSMIC: COSM116645
• MyVariant Identifiers: chr13:g.103527925C>T (hg19) ; chr13:g.102875575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875575C>T , CM000675.2:g.102875575C>T	GRCh38
NC_000013.10:g.103527925C>T , CM000675.1:g.103527925C>T	GRCh37
NC_000013.9:g.102325926C>T	NCBI36
NG_007146.1:g.34752C>T , LRG_464:g.34752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4334C>T (ERCC5)
ENST00000682869.1:n.3882C>T (ERCC5)
ENST00000683246.1:n.4870C>T (ERCC5)
ENST00000683642.1:n.3463C>T (ERCC5)
ENST00000639132.1:c.3908C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1303Phe
ENST00000639435.1:c.4595C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1532Phe
ENST00000651002.1:c.*2994C>T (ERCC5)	ENSP00000498809.1:n.*2994C>T
ENST00000651055.1:n.3360C>T (ERCC5)
ENST00000651281.1:n.3601C>T (ERCC5)
ENST00000651387.1:n.2717C>T (ERCC5)
ENST00000651470.1:c.*405C>T (ERCC5)	ENSP00000498701.1:n.*405C>T
ENST00000652225.2:c.3233C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ser1078Phe
ENST00000652613.1:c.2729C>T (ERCC5)	ENSP00000498357.1:p.Ser910Phe
ENST00000355739.8:c.3233C>T (ERCC5)	ENSP00000347978.4:p.Ser1078Phe
ENST00000375954.1:c.932C>T (ERCC5)	ENSP00000365121.1:p.Ser311Phe
ENST00000472247.1:n.393C>T (ERCC5)
ENST00000610537.4:c.3230C>T (ERCC5)	ENSP00000478667.1:p.Ser1077Phe
NM_000123.3:c.3233C>T , LRG_464t1:c.3233C>T (ERCC5)	NP_000114.2:p.Ser1078Phe
NM_001204425.1:c.4595C>T (BIVM-ERCC5)	NP_001191354.1:p.Ser1532Phe
NM_000123.4:c.3233C>T (ERCC5) MANE Select	NP_000114.3:p.Ser1078Phe
NM_001204425.2:c.4595C>T (BIVM-ERCC5)	NP_001191354.2:p.Ser1532Phe