Canonical Allele Identifier: CA2115203338

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1595372889
• gnomAD v4: 13-102846102-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846102T>C , CM000675.2:g.102846102T>C	GRCh38
NC_000013.10:g.103498452T>C , CM000675.1:g.103498452T>C	GRCh37
NC_000013.9:g.102296453T>C	NCBI36
NG_007146.1:g.5279T>C , LRG_464:g.5279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.77T>C (ERCC5)
ENST00000682869.1:n.70T>C (ERCC5)
ENST00000683246.1:n.198T>C (ERCC5)
ENST00000684184.1:n.67T>C (ERCC5)
ENST00000638434.1:c.363-7655T>C (BIVM-ERCC5)
ENST00000639118.1:c.363-3016T>C (BIVM-ERCC5)
ENST00000639132.1:c.764-6016T>C (BIVM-ERCC5)	ENSP00000492684.1:n.764-6016T>C
ENST00000639435.1:c.1451-6016T>C (BIVM-ERCC5)	ENSP00000491742.1:n.1451-6016T>C
ENST00000651002.1:c.-165T>C (ERCC5)	ENSP00000498809.1:n.-165T>C
ENST00000652225.2:c.-165T>C (ERCC5) MANE Select	ENSP00000498881.2:n.-165T>C
ENST00000652613.1:c.-662T>C (ERCC5)	ENSP00000498357.1:n.-662T>C
ENST00000355739.8:c.-165T>C (ERCC5)	ENSP00000347978.4:n.-165T>C
ENST00000472151.1:c.-165T>C (ERCC5)	ENSP00000436083.1:n.-165T>C
ENST00000535557.5:c.-165T>C (ERCC5)	ENSP00000442117.1:n.-165T>C
ENST00000602836.1:c.1365-6016T>C (BIVM-ERCC5)
NM_000123.3:c.-165T>C , LRG_464t1:c.-165T>C (ERCC5)	NP_000114.2:n.-165T>C
NM_001204425.1:c.1451-6016T>C (BIVM-ERCC5)	NP_001191354.1:n.1451-6016T>C
NM_000123.4:c.-165T>C (ERCC5) MANE Select	NP_000114.3:n.-165T>C
NM_001204425.2:c.1451-6016T>C (BIVM-ERCC5)	NP_001191354.2:n.1451-6016T>C