Canonical Allele Identifier: CA1139663079

Gene: ERCC5 BIVM-ERCC5

Linked Data

• ClinVar Variation Id: 883373
• ClinVar RCV Id: RCV001113720
• dbSNP Id: rs916384868

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846075A>C , CM000675.2:g.102846075A>C	GRCh38
NC_000013.10:g.103498425A>C , CM000675.1:g.103498425A>C	GRCh37
NC_000013.9:g.102296426A>C	NCBI36
NG_007146.1:g.5252A>C , LRG_464:g.5252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.50A>C (ERCC5)
ENST00000682869.1:n.43A>C (ERCC5)
ENST00000683246.1:n.171A>C (ERCC5)
ENST00000684184.1:n.40A>C (ERCC5)
ENST00000638434.1:c.363-7682A>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3043A>C (BIVM-ERCC5)
ENST00000639132.1:c.764-6043A>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-6043A>C
ENST00000639435.1:c.1451-6043A>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6043A>C
ENST00000651002.1:c.-192A>C (ERCC5)	ENSP00000498809.1:n.-192A>C
ENST00000652225.2:c.-192A>C (ERCC5) MANE Select	ENSP00000498881.2:n.-192A>C
ENST00000652613.1:c.-689A>C (ERCC5)	ENSP00000498357.1:n.-689A>C
ENST00000355739.8:c.-192A>C (ERCC5)	ENSP00000347978.4:n.-192A>C
ENST00000472151.1:c.-192A>C (ERCC5)	ENSP00000436083.1:n.-192A>C
ENST00000535557.5:c.-192A>C (ERCC5)	ENSP00000442117.1:n.-192A>C
ENST00000602836.1:c.1365-6043A>C (BIVM-ERCC5)
NM_000123.3:c.-192A>C , LRG_464t1:c.-192A>C (ERCC5)	NP_000114.2:n.-192A>C
NM_001204425.1:c.1451-6043A>C (BIVM-ERCC5)	NP_001191354.1:n.1451-6043A>C
NM_000123.4:c.-192A>C (ERCC5) MANE Select	NP_000114.3:n.-192A>C
NM_001204425.2:c.1451-6043A>C (BIVM-ERCC5)	NP_001191354.2:n.1451-6043A>C