Canonical Allele Identifier: CA612075218

Gene: BIVM-ERCC5 ERCC5

Linked Data

• dbSNP Id: rs999316491
• gnomAD v2: 13-103498162-G-C
• gnomAD v3: 13-102845812-G-C
• gnomAD v4: 13-102845812-G-C
• MyVariant Identifiers: chr13:g.103498162G>C (hg19) ; chr13:g.102845812G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102845812G>C , CM000675.2:g.102845812G>C	GRCh38
NC_000013.10:g.103498162G>C , CM000675.1:g.103498162G>C	GRCh37
NC_000013.9:g.102296163G>C	NCBI36
NG_007146.1:g.4989G>C , LRG_464:g.4989G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638434.1:c.363-7945G>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3306G>C (BIVM-ERCC5)
ENST00000639132.1:c.763+6009G>C (BIVM-ERCC5)	ENSP00000492684.1:n.763+6009G>C
ENST00000639435.1:c.1450+6009G>C (BIVM-ERCC5)	ENSP00000491742.1:n.1450+6009G>C
ENST00000355739.8:c.-455G>C (ERCC5)	ENSP00000347978.4:n.-455G>C
ENST00000602836.1:c.1364+6009G>C (BIVM-ERCC5)
NM_001204425.1:c.1450+6009G>C (BIVM-ERCC5)	NP_001191354.1:n.1450+6009G>C
NM_001204425.2:c.1450+6009G>C (BIVM-ERCC5)	NP_001191354.2:n.1450+6009G>C