Canonical Allele Identifier: CA959657018

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v3: 13-102845848-A-T
• gnomAD v4: 13-102845848-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845848A>T , CM000675.2:g.102845848A>T	GRCh38
NC_000013.10:g.103498198A>T , CM000675.1:g.103498198A>T	GRCh37
NC_000013.9:g.102296199A>T	NCBI36
NG_007146.1:g.5025A>T , LRG_464:g.5025A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7909A>T (BIVM-ERCC5)
ENST00000639118.1:c.363-3270A>T (BIVM-ERCC5)
ENST00000639132.1:c.763+6045A>T (BIVM-ERCC5)	ENSP00000492684.1:n.763+6045A>T
ENST00000639435.1:c.1450+6045A>T (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6045A>T
ENST00000651002.1:c.-419A>T (ERCC5)	ENSP00000498809.1:n.-419A>T
ENST00000355739.8:c.-419A>T (ERCC5)	ENSP00000347978.4:n.-419A>T
ENST00000535557.5:c.-419A>T (ERCC5)	ENSP00000442117.1:n.-419A>T
ENST00000602836.1:c.1364+6045A>T (BIVM-ERCC5)
NM_000123.3:c.-419A>T , LRG_464t1:c.-419A>T (ERCC5)	NP_000114.2:n.-419A>T
NM_001204425.1:c.1450+6045A>T (BIVM-ERCC5)	NP_001191354.1:n.1450+6045A>T
NM_001204425.2:c.1450+6045A>T (BIVM-ERCC5)	NP_001191354.2:n.1450+6045A>T