Canonical Allele Identifier: CA959657033

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1205298084
• gnomAD v3: 13-102845959-G-T
• gnomAD v4: 13-102845959-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845959G>T , CM000675.2:g.102845959G>T	GRCh38
NC_000013.10:g.103498309G>T , CM000675.1:g.103498309G>T	GRCh37
NC_000013.9:g.102296310G>T	NCBI36
NG_007146.1:g.5136G>T , LRG_464:g.5136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683246.1:n.55G>T (ERCC5)
ENST00000638434.1:c.363-7798G>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3159G>T (BIVM-ERCC5)
ENST00000639132.1:c.763+6156G>T (BIVM-ERCC5)	ENSP00000492684.1:n.763+6156G>T
ENST00000639435.1:c.1450+6156G>T (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6156G>T
ENST00000651002.1:c.-308G>T (ERCC5)	ENSP00000498809.1:n.-308G>T
ENST00000652613.1:c.-805G>T (ERCC5)	ENSP00000498357.1:n.-805G>T
ENST00000355739.8:c.-308G>T (ERCC5)	ENSP00000347978.4:n.-308G>T
ENST00000535557.5:c.-308G>T (ERCC5)	ENSP00000442117.1:n.-308G>T
ENST00000602836.1:c.1364+6156G>T (BIVM-ERCC5)
NM_000123.3:c.-308G>T , LRG_464t1:c.-308G>T (ERCC5)	NP_000114.2:n.-308G>T
NM_001204425.1:c.1450+6156G>T (BIVM-ERCC5)	NP_001191354.1:n.1450+6156G>T
NM_001204425.2:c.1450+6156G>T (BIVM-ERCC5)	NP_001191354.2:n.1450+6156G>T