Canonical Allele Identifier: CA7041788

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs147955525
• ExAC: 13:103525640 A / G
• gnomAD v2: 13-103525640-A-G
• gnomAD v3: 13-102873290-A-G
• gnomAD v4: 13-102873290-A-G
• MyVariant Identifiers: chr13:g.103525640A>G (hg19) ; chr13:g.102873290A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873290A>G , CM000675.2:g.102873290A>G	GRCh38
NC_000013.10:g.103525640A>G , CM000675.1:g.103525640A>G	GRCh37
NC_000013.9:g.102323641A>G	NCBI36
NG_007146.1:g.32467A>G , LRG_464:g.32467A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.4012A>G (ERCC5)
ENST00000682869.1:n.3560A>G (ERCC5)
ENST00000683246.1:n.4548A>G (ERCC5)
ENST00000683642.1:n.3141A>G (ERCC5)
ENST00000639132.1:c.3586A>G (BIVM-ERCC5)	ENSP00000492684.1:p.Thr1196Ala
ENST00000639435.1:c.4273A>G (BIVM-ERCC5)	ENSP00000491742.1:p.Thr1425Ala
ENST00000651002.1:c.*2672A>G (ERCC5)	ENSP00000498809.1:n.*2672A>G
ENST00000651055.1:n.3038A>G (ERCC5)
ENST00000651281.1:n.3279A>G (ERCC5)
ENST00000651387.1:n.2395A>G (ERCC5)
ENST00000651470.1:c.*83A>G (ERCC5)	ENSP00000498701.1:n.*83A>G
ENST00000652225.2:c.2911A>G (ERCC5) MANE Select	ENSP00000498881.2:p.Thr971Ala
ENST00000652613.1:c.2407A>G (ERCC5)	ENSP00000498357.1:p.Thr803Ala
ENST00000355739.8:c.2911A>G (ERCC5)	ENSP00000347978.4:p.Thr971Ala
ENST00000375954.1:c.610A>G (ERCC5)	ENSP00000365121.1:p.Thr204Ala
ENST00000610537.4:c.2908A>G (ERCC5)	ENSP00000478667.1:p.Thr970Ala
NM_000123.3:c.2911A>G , LRG_464t1:c.2911A>G (ERCC5)	NP_000114.2:p.Thr971Ala
NM_001204425.1:c.4273A>G (BIVM-ERCC5)	NP_001191354.1:p.Thr1425Ala
NM_000123.4:c.2911A>G (ERCC5) MANE Select	NP_000114.3:p.Thr971Ala
NM_001204425.2:c.4273A>G (BIVM-ERCC5)	NP_001191354.2:p.Thr1425Ala