Canonical Allele Identifier: CA7041187

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 997504
• ClinVar RCV Id: RCV001292692
• dbSNP Id: rs762256976
• ExAC: 13:103508445 C / A
• gnomAD v2: 13-103508445-C-A
• gnomAD v4: 13-102856095-C-A
• MyVariant Identifiers: chr13:g.103508445C>A (hg19) ; chr13:g.102856095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856095C>A , CM000675.2:g.102856095C>A	GRCh38
NC_000013.10:g.103508445C>A , CM000675.1:g.103508445C>A	GRCh37
NC_000013.9:g.102306446C>A	NCBI36
NG_007146.1:g.15272C>A , LRG_464:g.15272C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.752C>A (ERCC5)
ENST00000682869.1:n.1160C>A (ERCC5)
ENST00000683246.1:n.1288C>A (ERCC5)
ENST00000684184.1:n.1157C>A (ERCC5)
ENST00000638434.1:c.609C>A (BIVM-ERCC5)
ENST00000639132.1:c.1186C>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gln396Lys
ENST00000639435.1:c.1873C>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gln625Lys
ENST00000651002.1:c.*272C>A (ERCC5)	ENSP00000498809.1:n.*272C>A
ENST00000651055.1:n.640C>A (ERCC5)
ENST00000651281.1:n.879C>A (ERCC5)
ENST00000651470.1:c.511C>A (ERCC5)	ENSP00000498701.1:p.Gln171Lys
ENST00000652225.2:c.511C>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gln171Lys
ENST00000652613.1:c.7C>A (ERCC5)	ENSP00000498357.1:p.Gln3Lys
ENST00000355739.8:c.511C>A (ERCC5)	ENSP00000347978.4:p.Gln171Lys
ENST00000535557.5:c.511C>A (ERCC5)	ENSP00000442117.1:p.Gln171Lys
ENST00000602836.1:c.1787C>A (BIVM-ERCC5)
ENST00000610537.4:c.511C>A (ERCC5)	ENSP00000478667.1:p.Gln171Lys
NM_000123.3:c.511C>A , LRG_464t1:c.511C>A (ERCC5)	NP_000114.2:p.Gln171Lys
NM_001204425.1:c.1873C>A (BIVM-ERCC5)	NP_001191354.1:p.Gln625Lys
NM_000123.4:c.511C>A (ERCC5) MANE Select	NP_000114.3:p.Gln171Lys
NM_001204425.2:c.1873C>A (BIVM-ERCC5)	NP_001191354.2:p.Gln625Lys