Canonical Allele Identifier: CA388673544

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1248388142
• gnomAD v2: 13-103525656-C-T
• gnomAD v3: 13-102873306-C-T
• gnomAD v4: 13-102873306-C-T
• MyVariant Identifiers: chr13:g.103525656C>T (hg19) ; chr13:g.102873306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102873306C>T , CM000675.2:g.102873306C>T	GRCh38
NC_000013.10:g.103525656C>T , CM000675.1:g.103525656C>T	GRCh37
NC_000013.9:g.102323657C>T	NCBI36
NG_007146.1:g.32483C>T , LRG_464:g.32483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4028C>T (ERCC5)
ENST00000682869.1:n.3576C>T (ERCC5)
ENST00000683246.1:n.4564C>T (ERCC5)
ENST00000683642.1:n.3157C>T (ERCC5)
ENST00000639132.1:c.3602C>T (BIVM-ERCC5)	ENSP00000492684.1:p.Ser1201Phe
ENST00000639435.1:c.4289C>T (BIVM-ERCC5)	ENSP00000491742.1:p.Ser1430Phe
ENST00000651002.1:c.*2688C>T (ERCC5)	ENSP00000498809.1:n.*2688C>T
ENST00000651055.1:n.3054C>T (ERCC5)
ENST00000651281.1:n.3295C>T (ERCC5)
ENST00000651387.1:n.2411C>T (ERCC5)
ENST00000651470.1:c.*99C>T (ERCC5)	ENSP00000498701.1:n.*99C>T
ENST00000652225.2:c.2927C>T (ERCC5) MANE Select	ENSP00000498881.2:p.Ser976Phe
ENST00000652613.1:c.2423C>T (ERCC5)	ENSP00000498357.1:p.Ser808Phe
ENST00000355739.8:c.2927C>T (ERCC5)	ENSP00000347978.4:p.Ser976Phe
ENST00000375954.1:c.626C>T (ERCC5)	ENSP00000365121.1:p.Ser209Phe
ENST00000610537.4:c.2924C>T (ERCC5)	ENSP00000478667.1:p.Ser975Phe
NM_000123.3:c.2927C>T , LRG_464t1:c.2927C>T (ERCC5)	NP_000114.2:p.Ser976Phe
NM_001204425.1:c.4289C>T (BIVM-ERCC5)	NP_001191354.1:p.Ser1430Phe
NM_000123.4:c.2927C>T (ERCC5) MANE Select	NP_000114.3:p.Ser976Phe
NM_001204425.2:c.4289C>T (BIVM-ERCC5)	NP_001191354.2:p.Ser1430Phe