Canonical Allele Identifier: CA612075542

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1329656284
• gnomAD v2: 13-103498608-A-G
• gnomAD v4: 13-102846258-A-G
• MyVariant Identifiers: chr13:g.103498608A>G (hg19) ; chr13:g.102846258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846258A>G , CM000675.2:g.102846258A>G	GRCh38
NC_000013.10:g.103498608A>G , CM000675.1:g.103498608A>G	GRCh37
NC_000013.9:g.102296609A>G	NCBI36
NG_007146.1:g.5435A>G , LRG_464:g.5435A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.233A>G (ERCC5)
ENST00000682869.1:n.226A>G (ERCC5)
ENST00000683246.1:n.354A>G (ERCC5)
ENST00000684184.1:n.223A>G (ERCC5)
ENST00000638434.1:c.363-7499A>G (BIVM-ERCC5)
ENST00000639118.1:c.363-2860A>G (BIVM-ERCC5)
ENST00000639132.1:c.764-5860A>G (BIVM-ERCC5)	ENSP00000492684.1:n.764-5860A>G
ENST00000639435.1:c.1451-5860A>G (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5860A>G
ENST00000651002.1:c.-9A>G (ERCC5)	ENSP00000498809.1:n.-9A>G
ENST00000651470.1:c.-9A>G (ERCC5)	ENSP00000498701.1:n.-9A>G
ENST00000652225.2:c.-9A>G (ERCC5) MANE Select	ENSP00000498881.2:n.-9A>G
ENST00000652613.1:c.-506A>G (ERCC5)	ENSP00000498357.1:n.-506A>G
ENST00000355739.8:c.-9A>G (ERCC5)	ENSP00000347978.4:n.-9A>G
ENST00000375958.3:n.147A>G (ERCC5)
ENST00000472151.1:c.-9A>G (ERCC5)	ENSP00000436083.1:n.-9A>G
ENST00000535557.5:c.-9A>G (ERCC5)	ENSP00000442117.1:n.-9A>G
ENST00000602836.1:c.1365-5860A>G (BIVM-ERCC5)
ENST00000610537.4:c.-9A>G (ERCC5)	ENSP00000478667.1:n.-9A>G
NM_000123.3:c.-9A>G , LRG_464t1:c.-9A>G (ERCC5)	NP_000114.2:n.-9A>G
NM_001204425.1:c.1451-5860A>G (BIVM-ERCC5)	NP_001191354.1:n.1451-5860A>G
NM_000123.4:c.-9A>G (ERCC5) MANE Select	NP_000114.3:n.-9A>G
NM_001204425.2:c.1451-5860A>G (BIVM-ERCC5)	NP_001191354.2:n.1451-5860A>G