Canonical Allele Identifier: CA694376601

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1301786776
• gnomAD v4: 13-102873404-G-A
• MyVariant Identifiers: chr13:g.103525754G>A (hg19) ; chr13:g.102873404G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873404G>A , CM000675.2:g.102873404G>A	GRCh38
NC_000013.10:g.103525754G>A , CM000675.1:g.103525754G>A	GRCh37
NC_000013.9:g.102323755G>A	NCBI36
NG_007146.1:g.32581G>A , LRG_464:g.32581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4065+61G>A (ERCC5)
ENST00000682869.1:n.3613+61G>A (ERCC5)
ENST00000683246.1:n.4601+61G>A (ERCC5)
ENST00000683642.1:n.3194+61G>A (ERCC5)
ENST00000639132.1:c.3639+61G>A (BIVM-ERCC5)	ENSP00000492684.1:n.3639+61G>A
ENST00000639435.1:c.4326+61G>A (BIVM-ERCC5)	ENSP00000491742.1:n.4326+61G>A
ENST00000651002.1:c.*2725+61G>A (ERCC5)	ENSP00000498809.1:n.*2725+61G>A
ENST00000651055.1:n.3091+61G>A (ERCC5)
ENST00000651281.1:n.3332+61G>A (ERCC5)
ENST00000651387.1:n.2448+61G>A (ERCC5)
ENST00000651470.1:c.*136+61G>A (ERCC5)	ENSP00000498701.1:n.*136+61G>A
ENST00000652225.2:c.2964+61G>A (ERCC5) MANE Select	ENSP00000498881.2:n.2964+61G>A
ENST00000652613.1:c.2460+61G>A (ERCC5)	ENSP00000498357.1:n.2460+61G>A
ENST00000355739.8:c.2964+61G>A (ERCC5)	ENSP00000347978.4:n.2964+61G>A
ENST00000375954.1:c.663+61G>A (ERCC5)	ENSP00000365121.1:n.663+61G>A
ENST00000610537.4:c.2961+61G>A (ERCC5)	ENSP00000478667.1:n.2961+61G>A
NM_000123.3:c.2964+61G>A , LRG_464t1:c.2964+61G>A (ERCC5)	NP_000114.2:n.2964+61G>A
NM_001204425.1:c.4326+61G>A (BIVM-ERCC5)	NP_001191354.1:n.4326+61G>A
NM_000123.4:c.2964+61G>A (ERCC5) MANE Select	NP_000114.3:n.2964+61G>A
NM_001204425.2:c.4326+61G>A (BIVM-ERCC5)	NP_001191354.2:n.4326+61G>A