Canonical Allele Identifier: CA959657016

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs1355612996
• gnomAD v3: 13-102845842-T-A
• gnomAD v4: 13-102845842-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845842T>A , CM000675.2:g.102845842T>A	GRCh38
NC_000013.10:g.103498192T>A , CM000675.1:g.103498192T>A	GRCh37
NC_000013.9:g.102296193T>A	NCBI36
NG_007146.1:g.5019T>A , LRG_464:g.5019T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7915T>A (BIVM-ERCC5)
ENST00000639118.1:c.363-3276T>A (BIVM-ERCC5)
ENST00000639132.1:c.763+6039T>A (BIVM-ERCC5)	ENSP00000492684.1:n.763+6039T>A
ENST00000639435.1:c.1450+6039T>A (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6039T>A
ENST00000651002.1:c.-425T>A (ERCC5)	ENSP00000498809.1:n.-425T>A
ENST00000355739.8:c.-425T>A (ERCC5)	ENSP00000347978.4:n.-425T>A
ENST00000535557.5:c.-425T>A (ERCC5)	ENSP00000442117.1:n.-425T>A
ENST00000602836.1:c.1364+6039T>A (BIVM-ERCC5)
NM_000123.3:c.-425T>A , LRG_464t1:c.-425T>A (ERCC5)	NP_000114.2:n.-425T>A
NM_001204425.1:c.1450+6039T>A (BIVM-ERCC5)	NP_001191354.1:n.1450+6039T>A
NM_001204425.2:c.1450+6039T>A (BIVM-ERCC5)	NP_001191354.2:n.1450+6039T>A