Canonical Allele Identifier: CA388675001

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102875606-G-T
• MyVariant Identifiers: chr13:g.103527956G>T (hg19) ; chr13:g.102875606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875606G>T , CM000675.2:g.102875606G>T	GRCh38
NC_000013.10:g.103527956G>T , CM000675.1:g.103527956G>T	GRCh37
NC_000013.9:g.102325957G>T	NCBI36
NG_007146.1:g.34783G>T , LRG_464:g.34783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4365G>T (ERCC5)
ENST00000682869.1:n.3913G>T (ERCC5)
ENST00000683246.1:n.4901G>T (ERCC5)
ENST00000683642.1:n.3494G>T (ERCC5)
ENST00000639132.1:c.3939G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Leu1313Phe
ENST00000639435.1:c.4626G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Leu1542Phe
ENST00000651002.1:c.*3025G>T (ERCC5)	ENSP00000498809.1:n.*3025G>T
ENST00000651055.1:n.3391G>T (ERCC5)
ENST00000651281.1:n.3632G>T (ERCC5)
ENST00000651387.1:n.2748G>T (ERCC5)
ENST00000651470.1:c.*436G>T (ERCC5)	ENSP00000498701.1:n.*436G>T
ENST00000652225.2:c.3264G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Leu1088Phe
ENST00000652613.1:c.2760G>T (ERCC5)	ENSP00000498357.1:p.Leu920Phe
ENST00000355739.8:c.3264G>T (ERCC5)	ENSP00000347978.4:p.Leu1088Phe
ENST00000375954.1:c.963G>T (ERCC5)	ENSP00000365121.1:p.Leu321Phe
ENST00000472247.1:n.424G>T (ERCC5)
ENST00000610537.4:c.3261G>T (ERCC5)	ENSP00000478667.1:p.Leu1087Phe
NM_000123.3:c.3264G>T , LRG_464t1:c.3264G>T (ERCC5)	NP_000114.2:p.Leu1088Phe
NM_001204425.1:c.4626G>T (BIVM-ERCC5)	NP_001191354.1:p.Leu1542Phe
NM_000123.4:c.3264G>T (ERCC5) MANE Select	NP_000114.3:p.Leu1088Phe
NM_001204425.2:c.4626G>T (BIVM-ERCC5)	NP_001191354.2:p.Leu1542Phe