Canonical Allele Identifier: CA388674992

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1471188663
• gnomAD v2: 13-103527952-T-C
• gnomAD v3: 13-102875602-T-C
• gnomAD v4: 13-102875602-T-C
• MyVariant Identifiers: chr13:g.103527952T>C (hg19) ; chr13:g.102875602T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875602T>C , CM000675.2:g.102875602T>C	GRCh38
NC_000013.10:g.103527952T>C , CM000675.1:g.103527952T>C	GRCh37
NC_000013.9:g.102325953T>C	NCBI36
NG_007146.1:g.34779T>C , LRG_464:g.34779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4361T>C (ERCC5)
ENST00000682869.1:n.3909T>C (ERCC5)
ENST00000683246.1:n.4897T>C (ERCC5)
ENST00000683642.1:n.3490T>C (ERCC5)
ENST00000639132.1:c.3935T>C (BIVM-ERCC5)	ENSP00000492684.1:p.Phe1312Ser
ENST00000639435.1:c.4622T>C (BIVM-ERCC5)	ENSP00000491742.1:p.Phe1541Ser
ENST00000651002.1:c.*3021T>C (ERCC5)	ENSP00000498809.1:n.*3021T>C
ENST00000651055.1:n.3387T>C (ERCC5)
ENST00000651281.1:n.3628T>C (ERCC5)
ENST00000651387.1:n.2744T>C (ERCC5)
ENST00000651470.1:c.*432T>C (ERCC5)	ENSP00000498701.1:n.*432T>C
ENST00000652225.2:c.3260T>C (ERCC5) MANE Select	ENSP00000498881.2:p.Phe1087Ser
ENST00000652613.1:c.2756T>C (ERCC5)	ENSP00000498357.1:p.Phe919Ser
ENST00000355739.8:c.3260T>C (ERCC5)	ENSP00000347978.4:p.Phe1087Ser
ENST00000375954.1:c.959T>C (ERCC5)	ENSP00000365121.1:p.Phe320Ser
ENST00000472247.1:n.420T>C (ERCC5)
ENST00000610537.4:c.3257T>C (ERCC5)	ENSP00000478667.1:p.Phe1086Ser
NM_000123.3:c.3260T>C , LRG_464t1:c.3260T>C (ERCC5)	NP_000114.2:p.Phe1087Ser
NM_001204425.1:c.4622T>C (BIVM-ERCC5)	NP_001191354.1:p.Phe1541Ser
NM_000123.4:c.3260T>C (ERCC5) MANE Select	NP_000114.3:p.Phe1087Ser
NM_001204425.2:c.4622T>C (BIVM-ERCC5)	NP_001191354.2:p.Phe1541Ser