Canonical Allele Identifier: CA388565198

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs2140511662
• MyVariant Identifiers: chr13:g.103498701G>A (hg19) ; chr13:g.102846351G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102846351G>A , CM000675.2:g.102846351G>A	GRCh38
NC_000013.10:g.103498701G>A , CM000675.1:g.103498701G>A	GRCh37
NC_000013.9:g.102296702G>A	NCBI36
NG_007146.1:g.5528G>A , LRG_464:g.5528G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682632.1:n.326G>A (ERCC5)
ENST00000682869.1:n.319G>A (ERCC5)
ENST00000683246.1:n.447G>A (ERCC5)
ENST00000684184.1:n.316G>A (ERCC5)
ENST00000638434.1:c.363-7406G>A (BIVM-ERCC5)
ENST00000639118.1:c.363-2767G>A (BIVM-ERCC5)
ENST00000639132.1:c.764-5767G>A (BIVM-ERCC5)	ENSP00000492684.1:n.764-5767G>A
ENST00000639435.1:c.1451-5767G>A (BIVM-ERCC5)	ENSP00000491742.1:n.1451-5767G>A
ENST00000651002.1:c.85G>A (ERCC5)	ENSP00000498809.1:p.Val29Ile
ENST00000651470.1:c.85G>A (ERCC5)	ENSP00000498701.1:p.Val29Ile
ENST00000652225.2:c.85G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Val29Ile
ENST00000652613.1:c.-413G>A (ERCC5)	ENSP00000498357.1:n.-413G>A
ENST00000355739.8:c.85G>A (ERCC5)	ENSP00000347978.4:p.Val29Ile
ENST00000375958.3:n.240G>A (ERCC5)
ENST00000472151.1:c.48+37G>A (ERCC5)	ENSP00000436083.1:n.48+37G>A
ENST00000535557.5:c.85G>A (ERCC5)	ENSP00000442117.1:p.Val29Ile
ENST00000602836.1:c.1365-5767G>A (BIVM-ERCC5)
ENST00000610537.4:c.85G>A (ERCC5)	ENSP00000478667.1:p.Val29Ile
NM_000123.3:c.85G>A , LRG_464t1:c.85G>A (ERCC5)	NP_000114.2:p.Val29Ile
NM_001204425.1:c.1451-5767G>A (BIVM-ERCC5)	NP_001191354.1:n.1451-5767G>A
NM_000123.4:c.85G>A (ERCC5) MANE Select	NP_000114.3:p.Val29Ile
NM_001204425.2:c.1451-5767G>A (BIVM-ERCC5)	NP_001191354.2:n.1451-5767G>A