Canonical Allele Identifier: CA2623614011

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102846190-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846190C>G , CM000675.2:g.102846190C>G	GRCh38
NC_000013.10:g.103498540C>G , CM000675.1:g.103498540C>G	GRCh37
NC_000013.9:g.102296541C>G	NCBI36
NG_007146.1:g.5367C>G , LRG_464:g.5367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.165C>G (ERCC5)
ENST00000682869.1:n.158C>G (ERCC5)
ENST00000683246.1:n.286C>G (ERCC5)
ENST00000684184.1:n.155C>G (ERCC5)
ENST00000638434.1:c.363-7567C>G (BIVM-ERCC5)
ENST00000639118.1:c.363-2928C>G (BIVM-ERCC5)
ENST00000639132.1:c.764-5928C>G (BIVM-ERCC5)	ENSP00000492684.1:n.764-5928C>G
ENST00000639435.1:c.1451-5928C>G (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5928C>G
ENST00000651002.1:c.-77C>G (ERCC5)	ENSP00000498809.1:n.-77C>G
ENST00000652225.2:c.-77C>G (ERCC5) MANE Select	ENSP00000498881.2:n.-77C>G
ENST00000652613.1:c.-574C>G (ERCC5)	ENSP00000498357.1:n.-574C>G
ENST00000355739.8:c.-77C>G (ERCC5)	ENSP00000347978.4:n.-77C>G
ENST00000375958.3:n.79C>G (ERCC5)
ENST00000472151.1:c.-77C>G (ERCC5)	ENSP00000436083.1:n.-77C>G
ENST00000535557.5:c.-77C>G (ERCC5)	ENSP00000442117.1:n.-77C>G
ENST00000602836.1:c.1365-5928C>G (BIVM-ERCC5)
NM_000123.3:c.-77C>G , LRG_464t1:c.-77C>G (ERCC5)	NP_000114.2:n.-77C>G
NM_001204425.1:c.1451-5928C>G (BIVM-ERCC5)	NP_001191354.1:n.1451-5928C>G
NM_000123.4:c.-77C>G (ERCC5) MANE Select	NP_000114.3:n.-77C>G
NM_001204425.2:c.1451-5928C>G (BIVM-ERCC5)	NP_001191354.2:n.1451-5928C>G