Canonical Allele Identifier: CA388674960

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103527936A>G (hg19) ; chr13:g.102875586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875586A>G , CM000675.2:g.102875586A>G	GRCh38
NC_000013.10:g.103527936A>G , CM000675.1:g.103527936A>G	GRCh37
NC_000013.9:g.102325937A>G	NCBI36
NG_007146.1:g.34763A>G , LRG_464:g.34763A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4345A>G (ERCC5)
ENST00000682869.1:n.3893A>G (ERCC5)
ENST00000683246.1:n.4881A>G (ERCC5)
ENST00000683642.1:n.3474A>G (ERCC5)
ENST00000639132.1:c.3919A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Asn1307Asp
ENST00000639435.1:c.4606A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Asn1536Asp
ENST00000651002.1:c.*3005A>G (ERCC5)	ENSP00000498809.1:n.*3005A>G
ENST00000651055.1:n.3371A>G (ERCC5)
ENST00000651281.1:n.3612A>G (ERCC5)
ENST00000651387.1:n.2728A>G (ERCC5)
ENST00000651470.1:c.*416A>G (ERCC5)	ENSP00000498701.1:n.*416A>G
ENST00000652225.2:c.3244A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Asn1082Asp
ENST00000652613.1:c.2740A>G (ERCC5)	ENSP00000498357.1:p.Asn914Asp
ENST00000355739.8:c.3244A>G (ERCC5)	ENSP00000347978.4:p.Asn1082Asp
ENST00000375954.1:c.943A>G (ERCC5)	ENSP00000365121.1:p.Asn315Asp
ENST00000472247.1:n.404A>G (ERCC5)
ENST00000610537.4:c.3241A>G (ERCC5)	ENSP00000478667.1:p.Asn1081Asp
NM_000123.3:c.3244A>G , LRG_464t1:c.3244A>G (ERCC5)	NP_000114.2:p.Asn1082Asp
NM_001204425.1:c.4606A>G (BIVM-ERCC5)	NP_001191354.1:p.Asn1536Asp
NM_000123.4:c.3244A>G (ERCC5) MANE Select	NP_000114.3:p.Asn1082Asp
NM_001204425.2:c.4606A>G (BIVM-ERCC5)	NP_001191354.2:p.Asn1536Asp