Canonical Allele Identifier: CA388673575

Gene: ERCC5 BIVM-ERCC5

Linked Data

• MyVariant Identifiers: chr13:g.103525672A>C (hg19) ; chr13:g.102873322A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873322A>C , CM000675.2:g.102873322A>C	GRCh38
NC_000013.10:g.103525672A>C , CM000675.1:g.103525672A>C	GRCh37
NC_000013.9:g.102323673A>C	NCBI36
NG_007146.1:g.32499A>C , LRG_464:g.32499A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4044A>C (ERCC5)
ENST00000682869.1:n.3592A>C (ERCC5)
ENST00000683246.1:n.4580A>C (ERCC5)
ENST00000683642.1:n.3173A>C (ERCC5)
ENST00000639132.1:c.3618A>C (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1206Phe
ENST00000639435.1:c.4305A>C (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1435Phe
ENST00000651002.1:c.*2704A>C (ERCC5)	ENSP00000498809.1:n.*2704A>C
ENST00000651055.1:n.3070A>C (ERCC5)
ENST00000651281.1:n.3311A>C (ERCC5)
ENST00000651387.1:n.2427A>C (ERCC5)
ENST00000651470.1:c.*115A>C (ERCC5)	ENSP00000498701.1:n.*115A>C
ENST00000652225.2:c.2943A>C (ERCC5) MANE Select	ENSP00000498881.2:p.Leu981Phe
ENST00000652613.1:c.2439A>C (ERCC5)	ENSP00000498357.1:p.Leu813Phe
ENST00000355739.8:c.2943A>C (ERCC5)	ENSP00000347978.4:p.Leu981Phe
ENST00000375954.1:c.642A>C (ERCC5)	ENSP00000365121.1:p.Leu214Phe
ENST00000610537.4:c.2940A>C (ERCC5)	ENSP00000478667.1:p.Leu980Phe
NM_000123.3:c.2943A>C , LRG_464t1:c.2943A>C (ERCC5)	NP_000114.2:p.Leu981Phe
NM_001204425.1:c.4305A>C (BIVM-ERCC5)	NP_001191354.1:p.Leu1435Phe
NM_000123.4:c.2943A>C (ERCC5) MANE Select	NP_000114.3:p.Leu981Phe
NM_001204425.2:c.4305A>C (BIVM-ERCC5)	NP_001191354.2:p.Leu1435Phe