Canonical Allele Identifier: CA388574381

Gene: ERCC5 BIVM-ERCC5

Linked Data

• gnomAD v4: 13-102862938-G-T
• MyVariant Identifiers: chr13:g.103515288G>T (hg19) ; chr13:g.102862938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102862938G>T , CM000675.2:g.102862938G>T	GRCh38
NC_000013.10:g.103515288G>T , CM000675.1:g.103515288G>T	GRCh37
NC_000013.9:g.102313289G>T	NCBI36
NG_007146.1:g.22115G>T , LRG_464:g.22115G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.2030G>T (ERCC5)
ENST00000682869.1:n.2438G>T (ERCC5)
ENST00000683246.1:n.2566G>T (ERCC5)
ENST00000639132.1:c.2464G>T (BIVM-ERCC5)	ENSP00000492684.1:p.Val822Leu
ENST00000639435.1:c.3151G>T (BIVM-ERCC5)	ENSP00000491742.1:p.Val1051Leu
ENST00000651002.1:c.*1550G>T (ERCC5)	ENSP00000498809.1:n.*1550G>T
ENST00000651055.1:n.1918G>T (ERCC5)
ENST00000651281.1:n.2157G>T (ERCC5)
ENST00000651387.1:n.1273G>T (ERCC5)
ENST00000651470.1:c.1789G>T (ERCC5)	ENSP00000498701.1:p.Val597Leu
ENST00000652225.2:c.1789G>T (ERCC5) MANE Select	ENSP00000498881.2:p.Val597Leu
ENST00000652613.1:c.1285G>T (ERCC5)	ENSP00000498357.1:p.Val429Leu
ENST00000355739.8:c.1789G>T (ERCC5)	ENSP00000347978.4:p.Val597Leu
ENST00000602836.1:c.3065G>T (BIVM-ERCC5)
ENST00000610537.4:c.1789G>T (ERCC5)	ENSP00000478667.1:p.Val597Leu
NM_000123.3:c.1789G>T , LRG_464t1:c.1789G>T (ERCC5)	NP_000114.2:p.Val597Leu
NM_001204425.1:c.3151G>T (BIVM-ERCC5)	NP_001191354.1:p.Val1051Leu
NM_000123.4:c.1789G>T (ERCC5) MANE Select	NP_000114.3:p.Val597Leu
NM_001204425.2:c.3151G>T (BIVM-ERCC5)	NP_001191354.2:p.Val1051Leu