Canonical Allele Identifier: CA7041792

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs747456426
• ExAC: 13:103525649 G / A
• gnomAD v2: 13-103525649-G-A
• gnomAD v4: 13-102873299-G-A
• MyVariant Identifiers: chr13:g.103525649G>A (hg19) ; chr13:g.102873299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873299G>A , CM000675.2:g.102873299G>A	GRCh38
NC_000013.10:g.103525649G>A , CM000675.1:g.103525649G>A	GRCh37
NC_000013.9:g.102323650G>A	NCBI36
NG_007146.1:g.32476G>A , LRG_464:g.32476G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4021G>A (ERCC5)
ENST00000682869.1:n.3569G>A (ERCC5)
ENST00000683246.1:n.4557G>A (ERCC5)
ENST00000683642.1:n.3150G>A (ERCC5)
ENST00000639132.1:c.3595G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1199Asn
ENST00000639435.1:c.4282G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1428Asn
ENST00000651002.1:c.*2681G>A (ERCC5)	ENSP00000498809.1:n.*2681G>A
ENST00000651055.1:n.3047G>A (ERCC5)
ENST00000651281.1:n.3288G>A (ERCC5)
ENST00000651387.1:n.2404G>A (ERCC5)
ENST00000651470.1:c.*92G>A (ERCC5)	ENSP00000498701.1:n.*92G>A
ENST00000652225.2:c.2920G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Asp974Asn
ENST00000652613.1:c.2416G>A (ERCC5)	ENSP00000498357.1:p.Asp806Asn
ENST00000355739.8:c.2920G>A (ERCC5)	ENSP00000347978.4:p.Asp974Asn
ENST00000375954.1:c.619G>A (ERCC5)	ENSP00000365121.1:p.Asp207Asn
ENST00000610537.4:c.2917G>A (ERCC5)	ENSP00000478667.1:p.Asp973Asn
NM_000123.3:c.2920G>A , LRG_464t1:c.2920G>A (ERCC5)	NP_000114.2:p.Asp974Asn
NM_001204425.1:c.4282G>A (BIVM-ERCC5)	NP_001191354.1:p.Asp1428Asn
NM_000123.4:c.2920G>A (ERCC5) MANE Select	NP_000114.3:p.Asp974Asn
NM_001204425.2:c.4282G>A (BIVM-ERCC5)	NP_001191354.2:p.Asp1428Asn