Canonical Allele Identifier: CA484859203

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1361823475
• gnomAD v2: 13-103525630-C-T
• gnomAD v4: 13-102873280-C-T
• MyVariant Identifiers: chr13:g.103525630C>T (hg19) ; chr13:g.102873280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873280C>T , CM000675.2:g.102873280C>T	GRCh38
NC_000013.10:g.103525630C>T , CM000675.1:g.103525630C>T	GRCh37
NC_000013.9:g.102323631C>T	NCBI36
NG_007146.1:g.32457C>T , LRG_464:g.32457C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4002C>T (ERCC5)
ENST00000682869.1:n.3550C>T (ERCC5)
ENST00000683246.1:n.4538C>T (ERCC5)
ENST00000683642.1:n.3131C>T (ERCC5)
ENST00000639132.1:c.3576C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1192=
ENST00000639435.1:c.4263C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1421=
ENST00000651002.1:c.*2662C>T (ERCC5)	ENSP00000498809.1:n.*2662C>T
ENST00000651055.1:n.3028C>T (ERCC5)
ENST00000651281.1:n.3269C>T (ERCC5)
ENST00000651387.1:n.2385C>T (ERCC5)
ENST00000651470.1:c.*73C>T (ERCC5)	ENSP00000498701.1:n.*73C>T
ENST00000652225.2:c.2901C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Gly967=
ENST00000652613.1:c.2397C>T (ERCC5)	ENSP00000498357.1:p.Gly799=
ENST00000355739.8:c.2901C>T (ERCC5)	ENSP00000347978.4:p.Gly967=
ENST00000375954.1:c.600C>T (ERCC5)	ENSP00000365121.1:p.Gly200=
ENST00000610537.4:c.2898C>T (ERCC5)	ENSP00000478667.1:p.Gly966=
NM_000123.3:c.2901C>T , LRG_464t1:c.2901C>T (ERCC5)	NP_000114.2:p.Gly967=
NM_001204425.1:c.4263C>T (BIVM-ERCC5)	NP_001191354.1:p.Gly1421=
NM_000123.4:c.2901C>T (ERCC5) MANE Select	NP_000114.3:p.Gly967=
NM_001204425.2:c.4263C>T (BIVM-ERCC5)	NP_001191354.2:p.Gly1421=