Canonical Allele Identifier: CA388673620

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525691C>A (hg19) ; chr13:g.102873341C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873341C>A , CM000675.2:g.102873341C>A	GRCh38
NC_000013.10:g.103525691C>A , CM000675.1:g.103525691C>A	GRCh37
NC_000013.9:g.102323692C>A	NCBI36
NG_007146.1:g.32518C>A , LRG_464:g.32518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4063C>A (ERCC5)
ENST00000682869.1:n.3611C>A (ERCC5)
ENST00000683246.1:n.4599C>A (ERCC5)
ENST00000683642.1:n.3192C>A (ERCC5)
ENST00000639132.1:c.3637C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gln1213Lys
ENST00000639435.1:c.4324C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gln1442Lys
ENST00000651002.1:c.*2723C>A (ERCC5)	ENSP00000498809.1:n.*2723C>A
ENST00000651055.1:n.3089C>A (ERCC5)
ENST00000651281.1:n.3330C>A (ERCC5)
ENST00000651387.1:n.2446C>A (ERCC5)
ENST00000651470.1:c.*134C>A (ERCC5)	ENSP00000498701.1:n.*134C>A
ENST00000652225.2:c.2962C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gln988Lys
ENST00000652613.1:c.2458C>A (ERCC5)	ENSP00000498357.1:p.Gln820Lys
ENST00000355739.8:c.2962C>A (ERCC5)	ENSP00000347978.4:p.Gln988Lys
ENST00000375954.1:c.661C>A (ERCC5)	ENSP00000365121.1:p.Gln221Lys
ENST00000610537.4:c.2959C>A (ERCC5)	ENSP00000478667.1:p.Gln987Lys
NM_000123.3:c.2962C>A , LRG_464t1:c.2962C>A (ERCC5)	NP_000114.2:p.Gln988Lys
NM_001204425.1:c.4324C>A (BIVM-ERCC5)	NP_001191354.1:p.Gln1442Lys
NM_000123.4:c.2962C>A (ERCC5) MANE Select	NP_000114.3:p.Gln988Lys
NM_001204425.2:c.4324C>A (BIVM-ERCC5)	NP_001191354.2:p.Gln1442Lys