Canonical Allele Identifier: CA7041844

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 522359
• ClinVar RCV Id: RCV000625482 ; RCV000861317 ; RCV003917991
• dbSNP Id: rs148856875
• ExAC: 13:103527869 C / T
• gnomAD v2: 13-103527869-C-T
• gnomAD v3: 13-102875519-C-T
• gnomAD v4: 13-102875519-C-T
• MyVariant Identifiers: chr13:g.103527869C>T (hg19) ; chr13:g.102875519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875519C>T , CM000675.2:g.102875519C>T	GRCh38
NC_000013.10:g.103527869C>T , CM000675.1:g.103527869C>T	GRCh37
NC_000013.9:g.102325870C>T	NCBI36
NG_007146.1:g.34696C>T , LRG_464:g.34696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4278C>T (ERCC5)
ENST00000682869.1:n.3826C>T (ERCC5)
ENST00000683246.1:n.4814C>T (ERCC5)
ENST00000683642.1:n.3407C>T (ERCC5)
ENST00000639132.1:c.3852C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1284=
ENST00000639435.1:c.4539C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1513=
ENST00000651002.1:c.*2938C>T (ERCC5)	ENSP00000498809.1:n.*2938C>T
ENST00000651055.1:n.3304C>T (ERCC5)
ENST00000651281.1:n.3545C>T (ERCC5)
ENST00000651387.1:n.2661C>T (ERCC5)
ENST00000651470.1:c.*349C>T (ERCC5)	ENSP00000498701.1:n.*349C>T
ENST00000652225.2:c.3177C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Gly1059=
ENST00000652613.1:c.2673C>T (ERCC5)	ENSP00000498357.1:p.Gly891=
ENST00000355739.8:c.3177C>T (ERCC5)	ENSP00000347978.4:p.Gly1059=
ENST00000375954.1:c.876C>T (ERCC5)	ENSP00000365121.1:p.Gly292=
ENST00000472247.1:n.337C>T (ERCC5)
ENST00000610537.4:c.3174C>T (ERCC5)	ENSP00000478667.1:p.Gly1058=
NM_000123.3:c.3177C>T , LRG_464t1:c.3177C>T (ERCC5)	NP_000114.2:p.Gly1059=
NM_001204425.1:c.4539C>T (BIVM-ERCC5)	NP_001191354.1:p.Gly1513=
NM_000123.4:c.3177C>T (ERCC5) MANE Select	NP_000114.3:p.Gly1059=
NM_001204425.2:c.4539C>T (BIVM-ERCC5)	NP_001191354.2:p.Gly1513=