Canonical Allele Identifier: CA255207841

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs923328664
• gnomAD v2: 13-103498226-G-A
• gnomAD v3: 13-102845876-G-A
• gnomAD v4: 13-102845876-G-A
• MyVariant Identifiers: chr13:g.103498226G>A (hg19) ; chr13:g.102845876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845876G>A , CM000675.2:g.102845876G>A	GRCh38
NC_000013.10:g.103498226G>A , CM000675.1:g.103498226G>A	GRCh37
NC_000013.9:g.102296227G>A	NCBI36
NG_007146.1:g.5053G>A , LRG_464:g.5053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7881G>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3242G>A (BIVM-ERCC5)
ENST00000639132.1:c.763+6073G>A (BIVM-ERCC5)	ENSP00000492684.1:n.763+6073G>A
ENST00000639435.1:c.1450+6073G>A (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6073G>A
ENST00000651002.1:c.-391G>A (ERCC5)	ENSP00000498809.1:n.-391G>A
ENST00000652613.1:c.-888G>A (ERCC5)	ENSP00000498357.1:n.-888G>A
ENST00000355739.8:c.-391G>A (ERCC5)	ENSP00000347978.4:n.-391G>A
ENST00000535557.5:c.-391G>A (ERCC5)	ENSP00000442117.1:n.-391G>A
ENST00000602836.1:c.1364+6073G>A (BIVM-ERCC5)
NM_000123.3:c.-391G>A , LRG_464t1:c.-391G>A (ERCC5)	NP_000114.2:n.-391G>A
NM_001204425.1:c.1450+6073G>A (BIVM-ERCC5)	NP_001191354.1:n.1450+6073G>A
NM_001204425.2:c.1450+6073G>A (BIVM-ERCC5)	NP_001191354.2:n.1450+6073G>A