Canonical Allele Identifier: CA388674887

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875553-A-C
• MyVariant Identifiers: chr13:g.103527903A>C (hg19) ; chr13:g.102875553A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875553A>C , CM000675.2:g.102875553A>C	GRCh38
NC_000013.10:g.103527903A>C , CM000675.1:g.103527903A>C	GRCh37
NC_000013.9:g.102325904A>C	NCBI36
NG_007146.1:g.34730A>C , LRG_464:g.34730A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4312A>C (ERCC5)
ENST00000682869.1:n.3860A>C (ERCC5)
ENST00000683246.1:n.4848A>C (ERCC5)
ENST00000683642.1:n.3441A>C (ERCC5)
ENST00000639132.1:c.3886A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Lys1296Gln
ENST00000639435.1:c.4573A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Lys1525Gln
ENST00000651002.1:c.*2972A>C (ERCC5)	ENSP00000498809.1:n.*2972A>C
ENST00000651055.1:n.3338A>C (ERCC5)
ENST00000651281.1:n.3579A>C (ERCC5)
ENST00000651387.1:n.2695A>C (ERCC5)
ENST00000651470.1:c.*383A>C (ERCC5)	ENSP00000498701.1:n.*383A>C
ENST00000652225.2:c.3211A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Lys1071Gln
ENST00000652613.1:c.2707A>C (ERCC5)	ENSP00000498357.1:p.Lys903Gln
ENST00000355739.8:c.3211A>C (ERCC5)	ENSP00000347978.4:p.Lys1071Gln
ENST00000375954.1:c.910A>C (ERCC5)	ENSP00000365121.1:p.Lys304Gln
ENST00000472247.1:n.371A>C (ERCC5)
ENST00000610537.4:c.3208A>C (ERCC5)	ENSP00000478667.1:p.Lys1070Gln
NM_000123.3:c.3211A>C , LRG_464t1:c.3211A>C (ERCC5)	NP_000114.2:p.Lys1071Gln
NM_001204425.1:c.4573A>C (BIVM-ERCC5)	NP_001191354.1:p.Lys1525Gln
NM_000123.4:c.3211A>C (ERCC5) MANE Select	NP_000114.3:p.Lys1071Gln
NM_001204425.2:c.4573A>C (BIVM-ERCC5)	NP_001191354.2:p.Lys1525Gln