Canonical Allele Identifier: CA7041164

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs200645098
• ExAC: 13:103508369 C / G
• gnomAD v2: 13-103508369-C-G
• gnomAD v3: 13-102856019-C-G
• gnomAD v4: 13-102856019-C-G
• MyVariant Identifiers: chr13:g.103508369C>G (hg19) ; chr13:g.102856019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102856019C>G , CM000675.2:g.102856019C>G	GRCh38
NC_000013.10:g.103508369C>G , CM000675.1:g.103508369C>G	GRCh37
NC_000013.9:g.102306370C>G	NCBI36
NG_007146.1:g.15196C>G , LRG_464:g.15196C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.709-33C>G (ERCC5)
ENST00000682869.1:n.1117-33C>G (ERCC5)
ENST00000683246.1:n.1245-33C>G (ERCC5)
ENST00000684184.1:n.1114-33C>G (ERCC5)
ENST00000638434.1:c.566-33C>G (BIVM-ERCC5)
ENST00000639132.1:c.1143-33C>G (BIVM-ERCC5)	ENSP00000492684.1:n.1143-33C>G
ENST00000639435.1:c.1830-33C>G (BIVM-ERCC5)	ENSP00000491742.1:n.1830-33C>G
ENST00000651002.1:c.*229-33C>G (ERCC5)	ENSP00000498809.1:n.*229-33C>G
ENST00000651055.1:n.597-33C>G (ERCC5)
ENST00000651281.1:n.836-33C>G (ERCC5)
ENST00000651470.1:c.468-33C>G (ERCC5)	ENSP00000498701.1:n.468-33C>G
ENST00000652225.2:c.468-33C>G (ERCC5) MANE Select	ENSP00000498881.2:n.468-33C>G
ENST00000652613.1:c.-37-33C>G (ERCC5)	ENSP00000498357.1:n.-37-33C>G
ENST00000355739.8:c.468-33C>G (ERCC5)	ENSP00000347978.4:n.468-33C>G
ENST00000535557.5:c.468-33C>G (ERCC5)	ENSP00000442117.1:n.468-33C>G
ENST00000602836.1:c.1744-33C>G (BIVM-ERCC5)
ENST00000610537.4:c.468-33C>G (ERCC5)	ENSP00000478667.1:n.468-33C>G
NM_000123.3:c.468-33C>G , LRG_464t1:c.468-33C>G (ERCC5)	NP_000114.2:n.468-33C>G
NM_001204425.1:c.1830-33C>G (BIVM-ERCC5)	NP_001191354.1:n.1830-33C>G
NM_000123.4:c.468-33C>G (ERCC5) MANE Select	NP_000114.3:n.468-33C>G
NM_001204425.2:c.1830-33C>G (BIVM-ERCC5)	NP_001191354.2:n.1830-33C>G