Canonical Allele Identifier: CA484859214

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1883094273
• gnomAD v3: 13-102873301-T-C
• gnomAD v4: 13-102873301-T-C
• MyVariant Identifiers: chr13:g.103525651T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873301T>C , CM000675.2:g.102873301T>C	GRCh38
NC_000013.10:g.103525651T>C , CM000675.1:g.103525651T>C	GRCh37
NC_000013.9:g.102323652T>C	NCBI36
NG_007146.1:g.32478T>C , LRG_464:g.32478T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4023T>C (ERCC5)
ENST00000682869.1:n.3571T>C (ERCC5)
ENST00000683246.1:n.4559T>C (ERCC5)
ENST00000683642.1:n.3152T>C (ERCC5)
ENST00000639132.1:c.3597T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Asp1199=
ENST00000639435.1:c.4284T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Asp1428=
ENST00000651002.1:c.*2683T>C (ERCC5)	ENSP00000498809.1:n.*2683T>C
ENST00000651055.1:n.3049T>C (ERCC5)
ENST00000651281.1:n.3290T>C (ERCC5)
ENST00000651387.1:n.2406T>C (ERCC5)
ENST00000651470.1:c.*94T>C (ERCC5)	ENSP00000498701.1:n.*94T>C
ENST00000652225.2:c.2922T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Asp974=
ENST00000652613.1:c.2418T>C (ERCC5)	ENSP00000498357.1:p.Asp806=
ENST00000355739.8:c.2922T>C (ERCC5)	ENSP00000347978.4:p.Asp974=
ENST00000375954.1:c.621T>C (ERCC5)	ENSP00000365121.1:p.Asp207=
ENST00000610537.4:c.2919T>C (ERCC5)	ENSP00000478667.1:p.Asp973=
NM_000123.3:c.2922T>C , LRG_464t1:c.2922T>C (ERCC5)	NP_000114.2:p.Asp974=
NM_001204425.1:c.4284T>C (BIVM-ERCC5)	NP_001191354.1:p.Asp1428=
NM_000123.4:c.2922T>C (ERCC5) MANE Select	NP_000114.3:p.Asp974=
NM_001204425.2:c.4284T>C (BIVM-ERCC5)	NP_001191354.2:p.Asp1428=