Canonical Allele Identifier: CA2623613092

Gene: BIVM-ERCC5 ERCC5

Linked Data

• gnomAD v4: 13-102845860-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845860A>C , CM000675.2:g.102845860A>C	GRCh38
NC_000013.10:g.103498210A>C , CM000675.1:g.103498210A>C	GRCh37
NC_000013.9:g.102296211A>C	NCBI36
NG_007146.1:g.5037A>C , LRG_464:g.5037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7897A>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3258A>C (BIVM-ERCC5)
ENST00000639132.1:c.763+6057A>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+6057A>C
ENST00000639435.1:c.1450+6057A>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6057A>C
ENST00000651002.1:c.-407A>C (ERCC5)	ENSP00000498809.1:n.-407A>C
ENST00000355739.8:c.-407A>C (ERCC5)	ENSP00000347978.4:n.-407A>C
ENST00000535557.5:c.-407A>C (ERCC5)	ENSP00000442117.1:n.-407A>C
ENST00000602836.1:c.1364+6057A>C (BIVM-ERCC5)
NM_000123.3:c.-407A>C , LRG_464t1:c.-407A>C (ERCC5)	NP_000114.2:n.-407A>C
NM_001204425.1:c.1450+6057A>C (BIVM-ERCC5)	NP_001191354.1:n.1450+6057A>C
NM_001204425.2:c.1450+6057A>C (BIVM-ERCC5)	NP_001191354.2:n.1450+6057A>C