Canonical Allele Identifier: CA388675108

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 2291949
• ClinVar RCV Id: RCV002832366
• dbSNP Id: rs1368904077
• gnomAD v2: 13-103528006-C-G
• gnomAD v3: 13-102875656-C-G
• gnomAD v4: 13-102875656-C-G
• MyVariant Identifiers: chr13:g.103528006C>G (hg19) ; chr13:g.102875656C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875656C>G , CM000675.2:g.102875656C>G	GRCh38
NC_000013.10:g.103528006C>G , CM000675.1:g.103528006C>G	GRCh37
NC_000013.9:g.102326007C>G	NCBI36
NG_007146.1:g.34833C>G , LRG_464:g.34833C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4415C>G (ERCC5)
ENST00000682869.1:n.3963C>G (ERCC5)
ENST00000683246.1:n.4951C>G (ERCC5)
ENST00000683642.1:n.3544C>G (ERCC5)
ENST00000639132.1:c.3989C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Ala1330Gly
ENST00000639435.1:c.4676C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Ala1559Gly
ENST00000651002.1:c.*3075C>G (ERCC5)	ENSP00000498809.1:n.*3075C>G
ENST00000651055.1:n.3441C>G (ERCC5)
ENST00000651281.1:n.3682C>G (ERCC5)
ENST00000651387.1:n.2798C>G (ERCC5)
ENST00000651470.1:c.*486C>G (ERCC5)	ENSP00000498701.1:n.*486C>G
ENST00000652225.2:c.3314C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Ala1105Gly
ENST00000652613.1:c.2810C>G (ERCC5)	ENSP00000498357.1:p.Ala937Gly
ENST00000355739.8:c.3314C>G (ERCC5)	ENSP00000347978.4:p.Ala1105Gly
ENST00000375954.1:c.1013C>G (ERCC5)	ENSP00000365121.1:p.Ala338Gly
ENST00000472247.1:n.474C>G (ERCC5)
ENST00000610537.4:c.3311C>G (ERCC5)	ENSP00000478667.1:p.Ala1104Gly
NM_000123.3:c.3314C>G , LRG_464t1:c.3314C>G (ERCC5)	NP_000114.2:p.Ala1105Gly
NM_001204425.1:c.4676C>G (BIVM-ERCC5)	NP_001191354.1:p.Ala1559Gly
NM_000123.4:c.3314C>G (ERCC5) MANE Select	NP_000114.3:p.Ala1105Gly
NM_001204425.2:c.4676C>G (BIVM-ERCC5)	NP_001191354.2:p.Ala1559Gly