Canonical Allele Identifier: CA484983654

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875615-C-G
• MyVariant Identifiers: chr13:g.103527965C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875615C>G , CM000675.2:g.102875615C>G	GRCh38
NC_000013.10:g.103527965C>G , CM000675.1:g.103527965C>G	GRCh37
NC_000013.9:g.102325966C>G	NCBI36
NG_007146.1:g.34792C>G , LRG_464:g.34792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4374C>G (ERCC5)
ENST00000682869.1:n.3922C>G (ERCC5)
ENST00000683246.1:n.4910C>G (ERCC5)
ENST00000683642.1:n.3503C>G (ERCC5)
ENST00000639132.1:c.3948C>G (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1316=
ENST00000639435.1:c.4635C>G (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1545=
ENST00000651002.1:c.*3034C>G (ERCC5)	ENSP00000498809.1:n.*3034C>G
ENST00000651055.1:n.3400C>G (ERCC5)
ENST00000651281.1:n.3641C>G (ERCC5)
ENST00000651387.1:n.2757C>G (ERCC5)
ENST00000651470.1:c.*445C>G (ERCC5)	ENSP00000498701.1:n.*445C>G
ENST00000652225.2:c.3273C>G (ERCC5) MANE Select	ENSP00000498881.2:p.Thr1091=
ENST00000652613.1:c.2769C>G (ERCC5)	ENSP00000498357.1:p.Thr923=
ENST00000355739.8:c.3273C>G (ERCC5)	ENSP00000347978.4:p.Thr1091=
ENST00000375954.1:c.972C>G (ERCC5)	ENSP00000365121.1:p.Thr324=
ENST00000472247.1:n.433C>G (ERCC5)
ENST00000610537.4:c.3270C>G (ERCC5)	ENSP00000478667.1:p.Thr1090=
NM_000123.3:c.3273C>G , LRG_464t1:c.3273C>G (ERCC5)	NP_000114.2:p.Thr1091=
NM_001204425.1:c.4635C>G (BIVM-ERCC5)	NP_001191354.1:p.Thr1545=
NM_000123.4:c.3273C>G (ERCC5) MANE Select	NP_000114.3:p.Thr1091=
NM_001204425.2:c.4635C>G (BIVM-ERCC5)	NP_001191354.2:p.Thr1545=