Canonical Allele Identifier: CA388674891

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875554-A-T
• MyVariant Identifiers: chr13:g.103527904A>T (hg19) ; chr13:g.102875554A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875554A>T , CM000675.2:g.102875554A>T	GRCh38
NC_000013.10:g.103527904A>T , CM000675.1:g.103527904A>T	GRCh37
NC_000013.9:g.102325905A>T	NCBI36
NG_007146.1:g.34731A>T , LRG_464:g.34731A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4313A>T (ERCC5)
ENST00000682869.1:n.3861A>T (ERCC5)
ENST00000683246.1:n.4849A>T (ERCC5)
ENST00000683642.1:n.3442A>T (ERCC5)
ENST00000639132.1:c.3887A>T (BIVM-ERCC5)	ENSP00000492684.1:p.Lys1296Ile
ENST00000639435.1:c.4574A>T (BIVM-ERCC5)	ENSP00000491742.1:p.Lys1525Ile
ENST00000651002.1:c.*2973A>T (ERCC5)	ENSP00000498809.1:n.*2973A>T
ENST00000651055.1:n.3339A>T (ERCC5)
ENST00000651281.1:n.3580A>T (ERCC5)
ENST00000651387.1:n.2696A>T (ERCC5)
ENST00000651470.1:c.*384A>T (ERCC5)	ENSP00000498701.1:n.*384A>T
ENST00000652225.2:c.3212A>T (ERCC5) MANE Select	ENSP00000498881.2:p.Lys1071Ile
ENST00000652613.1:c.2708A>T (ERCC5)	ENSP00000498357.1:p.Lys903Ile
ENST00000355739.8:c.3212A>T (ERCC5)	ENSP00000347978.4:p.Lys1071Ile
ENST00000375954.1:c.911A>T (ERCC5)	ENSP00000365121.1:p.Lys304Ile
ENST00000472247.1:n.372A>T (ERCC5)
ENST00000610537.4:c.3209A>T (ERCC5)	ENSP00000478667.1:p.Lys1070Ile
NM_000123.3:c.3212A>T , LRG_464t1:c.3212A>T (ERCC5)	NP_000114.2:p.Lys1071Ile
NM_001204425.1:c.4574A>T (BIVM-ERCC5)	NP_001191354.1:p.Lys1525Ile
NM_000123.4:c.3212A>T (ERCC5) MANE Select	NP_000114.3:p.Lys1071Ile
NM_001204425.2:c.4574A>T (BIVM-ERCC5)	NP_001191354.2:p.Lys1525Ile