Canonical Allele Identifier: CA484983628

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875604-T-C
• MyVariant Identifiers: chr13:g.103527954T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875604T>C , CM000675.2:g.102875604T>C	GRCh38
NC_000013.10:g.103527954T>C , CM000675.1:g.103527954T>C	GRCh37
NC_000013.9:g.102325955T>C	NCBI36
NG_007146.1:g.34781T>C , LRG_464:g.34781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4363T>C (ERCC5)
ENST00000682869.1:n.3911T>C (ERCC5)
ENST00000683246.1:n.4899T>C (ERCC5)
ENST00000683642.1:n.3492T>C (ERCC5)
ENST00000639132.1:c.3937T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1313=
ENST00000639435.1:c.4624T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1542=
ENST00000651002.1:c.*3023T>C (ERCC5)	ENSP00000498809.1:n.*3023T>C
ENST00000651055.1:n.3389T>C (ERCC5)
ENST00000651281.1:n.3630T>C (ERCC5)
ENST00000651387.1:n.2746T>C (ERCC5)
ENST00000651470.1:c.*434T>C (ERCC5)	ENSP00000498701.1:n.*434T>C
ENST00000652225.2:c.3262T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1088=
ENST00000652613.1:c.2758T>C (ERCC5)	ENSP00000498357.1:p.Leu920=
ENST00000355739.8:c.3262T>C (ERCC5)	ENSP00000347978.4:p.Leu1088=
ENST00000375954.1:c.961T>C (ERCC5)	ENSP00000365121.1:p.Leu321=
ENST00000472247.1:n.422T>C (ERCC5)
ENST00000610537.4:c.3259T>C (ERCC5)	ENSP00000478667.1:p.Leu1087=
NM_000123.3:c.3262T>C , LRG_464t1:c.3262T>C (ERCC5)	NP_000114.2:p.Leu1088=
NM_001204425.1:c.4624T>C (BIVM-ERCC5)	NP_001191354.1:p.Leu1542=
NM_000123.4:c.3262T>C (ERCC5) MANE Select	NP_000114.3:p.Leu1088=
NM_001204425.2:c.4624T>C (BIVM-ERCC5)	NP_001191354.2:p.Leu1542=