Canonical Allele Identifier: CA255207979

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs548542886
• gnomAD v3: 13-102846043-C-G
• gnomAD v4: 13-102846043-C-G
• MyVariant Identifiers: chr13:g.103498393C>G (hg19) ; chr13:g.102846043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846043C>G , CM000675.2:g.102846043C>G	GRCh38
NC_000013.10:g.103498393C>G , CM000675.1:g.103498393C>G	GRCh37
NC_000013.9:g.102296394C>G	NCBI36
NG_007146.1:g.5220C>G , LRG_464:g.5220C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.18C>G (ERCC5)
ENST00000682869.1:n.11C>G (ERCC5)
ENST00000683246.1:n.139C>G (ERCC5)
ENST00000684184.1:n.8C>G (ERCC5)
ENST00000638434.1:c.363-7714C>G (BIVM-ERCC5)
ENST00000639118.1:c.363-3075C>G (BIVM-ERCC5)
ENST00000639132.1:c.764-6075C>G (BIVM-ERCC5)	ENSP00000492684.1:n.764-6075C>G
ENST00000639435.1:c.1451-6075C>G (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6075C>G
ENST00000651002.1:c.-224C>G (ERCC5)	ENSP00000498809.1:n.-224C>G
ENST00000652225.2:c.-224C>G (ERCC5) MANE Select	ENSP00000498881.2:n.-224C>G
ENST00000652613.1:c.-721C>G (ERCC5)	ENSP00000498357.1:n.-721C>G
ENST00000355739.8:c.-224C>G (ERCC5)	ENSP00000347978.4:n.-224C>G
ENST00000535557.5:c.-224C>G (ERCC5)	ENSP00000442117.1:n.-224C>G
ENST00000602836.1:c.1365-6075C>G (BIVM-ERCC5)
NM_000123.3:c.-224C>G , LRG_464t1:c.-224C>G (ERCC5)	NP_000114.2:n.-224C>G
NM_001204425.1:c.1451-6075C>G (BIVM-ERCC5)	NP_001191354.1:n.1451-6075C>G
NM_000123.4:c.-224C>G (ERCC5) MANE Select	NP_000114.3:n.-224C>G
NM_001204425.2:c.1451-6075C>G (BIVM-ERCC5)	NP_001191354.2:n.1451-6075C>G